Canonical Allele Identifier: CA341315906
Community Standard Title: NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)
Gene: SLC35A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100015391C>T , CM000663.2:g.100015391C>T GRCh38
NC_000001.10:g.100480947C>T , CM000663.1:g.100480947C>T GRCh37
NC_000001.9:g.100253535C>T NCBI36
NG_033857.1:g.50603C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012243.3:c.724C>T MANE Select NP_036375.1:p.Arg242Ter
ENST00000533028.8:c.724C>T MANE Select ENSP00000433849.1:p.Arg242Ter
NM_001271684.1:c.634+3858C>T NP_001258613.1:n.634+3858C>T
NM_001271684.2:c.634+3858C>T NP_001258613.1:n.634+3858C>T
NM_001271685.1:c.850C>T NP_001258614.1:p.Arg284Ter
NM_001271685.2:c.850C>T NP_001258614.1:p.Arg284Ter
NM_012243.2:c.724C>T NP_036375.1:p.Arg242Ter
ENST00000370153.5:c.850C>T ENSP00000359172.1:p.Arg284Ter
ENST00000370153.6:c.850C>T ENSP00000359172.1:p.Arg284Ter
ENST00000370155.7:c.724C>T ENSP00000359174.3:p.Arg242Ter
ENST00000370155.9:c.*530C>T ENSP00000359174.5:n.*530C>T
ENST00000370156.3:n.681C>T
ENST00000427993.6:c.724C>T ENSP00000414947.2:p.Arg242Ter
ENST00000427993.7:c.724C>T ENSP00000414947.2:p.Arg242Ter
ENST00000465289.5:c.634+3858C>T ENSP00000418527.1:n.634+3858C>T
ENST00000465289.6:c.724C>T ENSP00000418527.2:p.Arg242Ter
ENST00000533028.5:c.724C>T ENSP00000433849.1:p.Arg242Ter
ENST00000638336.1:c.634+3858C>T ENSP00000491145.1:n.634+3858C>T
ENST00000638338.1:c.724C>T ENSP00000491533.1:p.Arg242Ter
ENST00000638371.1:c.724C>T ENSP00000491146.1:p.Arg242Ter
ENST00000638779.1:c.601C>T ENSP00000492662.1:p.Arg201Ter
ENST00000638792.1:c.724C>T ENSP00000491854.1:p.Arg242Ter
ENST00000638876.1:c.*326C>T ENSP00000491185.1:n.*326C>T
ENST00000638968.1:c.724C>T ENSP00000491405.1:p.Arg242Ter
ENST00000638988.1:c.724C>T ENSP00000492681.1:p.Arg242Ter
ENST00000639037.1:c.724C>T ENSP00000492745.1:p.Arg242Ter
ENST00000639040.1:c.634+3858C>T ENSP00000492034.1:n.634+3858C>T
ENST00000639088.1:c.*326C>T ENSP00000492308.1:n.*326C>T
ENST00000639148.1:c.*236C>T ENSP00000491383.1:n.*236C>T
ENST00000639171.1:c.634+3858C>T ENSP00000492729.1:n.634+3858C>T
ENST00000639221.1:c.601C>T ENSP00000492169.1:p.Arg201Ter
ENST00000639807.1:c.601C>T ENSP00000490964.1:p.Arg201Ter
ENST00000639994.1:c.724C>T ENSP00000492135.1:p.Arg242Ter
ENST00000640178.1:c.*326C>T ENSP00000491771.1:n.*326C>T
ENST00000640238.1:c.*530C>T ENSP00000491093.1:n.*530C>T
ENST00000640357.1:c.724C>T ENSP00000491367.1:p.Arg242Ter
ENST00000640360.1:c.*236+3858C>T ENSP00000491598.1:n.*236+3858C>T
ENST00000640600.1:c.724C>T ENSP00000491789.1:p.Arg242Ter
ENST00000640715.1:c.724C>T ENSP00000492801.1:p.Arg242Ter
ENST00000640726.1:c.*292C>T ENSP00000492128.1:n.*292C>T
ENST00000640732.1:c.601C>T ENSP00000492771.1:p.Arg201Ter
XM_005270691.3:c.724C>T XP_005270748.1:p.Arg242Ter
XM_005270691.5:c.724C>T XP_005270748.1:p.Arg242Ter
XM_005270693.2:c.334C>T XP_005270750.1:p.Arg112Ter
XM_011541135.1:c.727C>T XP_011539437.1:p.Arg243Ter
XM_011541135.3:c.727C>T XP_011539437.1:p.Arg243Ter
XM_011541136.1:c.724C>T XP_011539438.1:p.Arg242Ter
XM_011541136.2:c.724C>T XP_011539438.1:p.Arg242Ter
XM_011541137.1:c.850C>T XP_011539439.1:p.Arg284Ter
XM_011541137.3:c.850C>T XP_011539439.1:p.Arg284Ter
XM_011541138.1:c.760+3858C>T XP_011539440.1:n.760+3858C>T
XM_011541138.3:c.760+3858C>T XP_011539440.1:n.760+3858C>T
XM_017000869.2:c.601C>T XP_016856358.1:p.Arg201Ter
XM_017000870.2:c.724C>T XP_016856359.1:p.Arg242Ter
XM_017000871.2:c.601C>T XP_016856360.1:p.Arg201Ter
XR_947626.1:n.269+22339G>A
XR_947627.1:n.269+22339G>A
XR_947628.1:n.269+22339G>A
XR_947629.1:n.269+22339G>A
XR_947630.1:n.269+22339G>A
XR_947631.1:n.269+22339G>A
XR_947632.1:n.269+22339G>A
XR_947633.1:n.269+22339G>A
XR_947634.1:n.269+22339G>A
XR_947635.1:n.269+22339G>A