Canonical Allele Identifier: CA2578402143
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390630G>T , CM000667.2:g.132390630G>T GRCh38
NC_000005.9:g.131726322G>T , CM000667.1:g.131726322G>T GRCh37
NC_000005.8:g.131754221G>T NCBI36
NG_008982.1:g.25922G>T
NG_008982.2:g.25927G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.894-60G>T ENSP00000388838.2:n.894-60G>T
ENST00000435065.7:c.1125-60G>T ENSP00000402760.2:n.1125-60G>T
ENST00000448810.6:c.1053-146G>T ENSP00000401860.2:n.1053-146G>T
ENST00000685543.1:n.1194-60G>T
ENST00000686757.1:c.*217-60G>T ENSP00000510721.1:n.*217-60G>T
ENST00000687740.1:n.3738-60G>T
ENST00000688151.1:n.2363-60G>T
ENST00000689271.1:c.900-60G>T ENSP00000510797.1:n.900-60G>T
ENST00000690900.1:c.*217-60G>T ENSP00000510703.1:n.*217-60G>T
ENST00000692212.1:n.2605G>T
ENST00000692355.1:c.306-60G>T
ENST00000692413.1:c.1035-60G>T ENSP00000509374.1:n.1035-60G>T
ENST00000692825.1:c.1121-60G>T ENSP00000509447.1:n.1121-60G>T
ENST00000693308.1:c.1101-60G>T ENSP00000509770.1:n.1101-60G>T
ENST00000693763.1:n.2213-60G>T
ENST00000245407.8:c.1053-60G>T MANE Select ENSP00000245407.3:n.1053-60G>T
ENST00000245407.7:c.1053-60G>T ENSP00000245407.3:n.1053-60G>T
ENST00000435065.6:c.1125-60G>T ENSP00000402760.2:n.1125-60G>T
ENST00000447841.5:c.111+1609G>T
ENST00000448810.5:c.401-146G>T
ENST00000461013.5:n.8475-60G>T
ENST00000475308.1:n.1671G>T
ENST00000479605.5:n.156-60G>T
NM_001308122.1:c.1125-60G>T NP_001295051.1:n.1125-60G>T
NM_003060.3:c.1053-60G>T NP_003051.1:n.1053-60G>T
XM_011543590.1:c.435-60G>T XP_011541892.1:n.435-60G>T
XR_427718.1:n.1413-60G>T
XR_948290.1:n.1393+1609G>T
XR_948291.1:n.1407-60G>T
XM_011543590.2:c.435-60G>T XP_011541892.1:n.435-60G>T
XM_017009778.2:c.525-60G>T XP_016865267.1:n.525-60G>T
XR_001742215.1:n.1394-146G>T
XR_001742216.1:n.1413-146G>T
XR_427718.2:n.1413-60G>T
XR_948290.2:n.1393+1609G>T
XR_948291.2:n.1407-60G>T
NM_003060.4:c.1053-60G>T MANE Select NP_003051.1:n.1053-60G>T
NM_001308122.2:c.1125-60G>T NP_001295051.1:n.1125-60G>T