Canonical Allele Identifier: CA341317459

Gene: SLC35A3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100017739G>T , CM000663.2:g.100017739G>T	GRCh38
NC_000001.10:g.100483295G>T , CM000663.1:g.100483295G>T	GRCh37
NC_000001.9:g.100255883G>T	NCBI36
NG_033857.1:g.52951G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012243.3:c.811G>T MANE Select	NP_036375.1:p.Gly271Ter
ENST00000533028.8:c.811G>T MANE Select	ENSP00000433849.1:p.Gly271Ter
NM_001271684.1:c.635-4647G>T	NP_001258613.1:n.635-4647G>T
NM_001271684.2:c.635-4647G>T	NP_001258613.1:n.635-4647G>T
NM_001271685.1:c.937G>T	NP_001258614.1:p.Gly313Ter
NM_001271685.2:c.937G>T	NP_001258614.1:p.Gly313Ter
NM_012243.2:c.811G>T	NP_036375.1:p.Gly271Ter
ENST00000370153.5:c.937G>T	ENSP00000359172.1:p.Gly313Ter
ENST00000370153.6:c.937G>T	ENSP00000359172.1:p.Gly313Ter
ENST00000370155.7:c.811G>T	ENSP00000359174.3:p.Gly271Ter
ENST00000370155.9:c.*617G>T	ENSP00000359174.5:n.*617G>T
ENST00000370156.3:n.768G>T
ENST00000427993.6:c.811G>T	ENSP00000414947.2:p.Gly271Ter
ENST00000427993.7:c.811G>T	ENSP00000414947.2:p.Gly271Ter
ENST00000465289.5:c.635-4647G>T	ENSP00000418527.1:n.635-4647G>T
ENST00000465289.6:c.811G>T	ENSP00000418527.2:p.Gly271Ter
ENST00000533028.5:c.811G>T	ENSP00000433849.1:p.Gly271Ter
ENST00000638336.1:c.635-4647G>T	ENSP00000491145.1:n.635-4647G>T
ENST00000638338.1:c.753+2319G>T	ENSP00000491533.1:n.753+2319G>T
ENST00000638371.1:c.811G>T	ENSP00000491146.1:p.Gly271Ter
ENST00000638779.1:c.688G>T	ENSP00000492662.1:p.Gly230Ter
ENST00000638792.1:c.753+2319G>T	ENSP00000491854.1:n.753+2319G>T
ENST00000638968.1:c.811G>T	ENSP00000491405.1:p.Gly271Ter
ENST00000639037.1:c.753+2319G>T	ENSP00000492745.1:n.753+2319G>T
ENST00000639040.1:c.634+6206G>T	ENSP00000492034.1:n.634+6206G>T
ENST00000639088.1:c.*413G>T	ENSP00000492308.1:n.*413G>T
ENST00000639148.1:c.*323G>T	ENSP00000491383.1:n.*323G>T
ENST00000639171.1:c.634+6206G>T	ENSP00000492729.1:n.634+6206G>T
ENST00000639221.1:c.630+2319G>T	ENSP00000492169.1:n.630+2319G>T
ENST00000639807.1:c.688G>T	ENSP00000490964.1:p.Gly230Ter
ENST00000639994.1:c.811G>T	ENSP00000492135.1:p.Gly271Ter
ENST00000640178.1:c.*413G>T	ENSP00000491771.1:n.*413G>T
ENST00000640238.1:c.*617G>T	ENSP00000491093.1:n.*617G>T
ENST00000640357.1:c.811G>T	ENSP00000491367.1:p.Gly271Ter
ENST00000640360.1:c.*237-4647G>T	ENSP00000491598.1:n.*237-4647G>T
ENST00000640600.1:c.811G>T	ENSP00000491789.1:p.Gly271Ter
ENST00000640715.1:c.753+2319G>T	ENSP00000492801.1:n.753+2319G>T
ENST00000640726.1:c.*379G>T	ENSP00000492128.1:n.*379G>T
ENST00000640732.1:c.688G>T	ENSP00000492771.1:p.Gly230Ter
XM_005270691.3:c.811G>T	XP_005270748.1:p.Gly271Ter
XM_005270691.5:c.811G>T	XP_005270748.1:p.Gly271Ter
XM_005270693.2:c.421G>T	XP_005270750.1:p.Gly141Ter
XM_011541135.1:c.814G>T	XP_011539437.1:p.Gly272Ter
XM_011541135.3:c.814G>T	XP_011539437.1:p.Gly272Ter
XM_011541136.1:c.811G>T	XP_011539438.1:p.Gly271Ter
XM_011541136.2:c.811G>T	XP_011539438.1:p.Gly271Ter
XM_011541137.1:c.879+2319G>T	XP_011539439.1:n.879+2319G>T
XM_011541137.3:c.879+2319G>T	XP_011539439.1:n.879+2319G>T
XM_011541138.1:c.761-4647G>T	XP_011539440.1:n.761-4647G>T
XM_011541138.3:c.761-4647G>T	XP_011539440.1:n.761-4647G>T
XM_017000869.2:c.688G>T	XP_016856358.1:p.Gly230Ter
XM_017000870.2:c.753+2319G>T	XP_016856359.1:n.753+2319G>T
XM_017000871.2:c.630+2319G>T	XP_016856360.1:n.630+2319G>T
XR_947626.1:n.269+19991C>A
XR_947627.1:n.269+19991C>A
XR_947628.1:n.269+19991C>A
XR_947629.1:n.269+19991C>A
XR_947630.1:n.269+19991C>A
XR_947631.1:n.269+19991C>A
XR_947632.1:n.269+19991C>A
XR_947633.1:n.269+19991C>A
XR_947634.1:n.269+19991C>A
XR_947635.1:n.269+19991C>A