Canonical Allele Identifier: CA147625
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 94102
dbSNP Id: rs274557

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385512T>C , CM000667.2:g.132385512T>C GRCh38
NC_000005.9:g.131721204T>C , CM000667.1:g.131721204T>C GRCh37
NC_000005.8:g.131749103T>C NCBI36
NG_008982.1:g.20804T>C
NG_008982.2:g.20809T>C

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.896+13T>C VV NP_001295051.1:p.=
NM_003060.3:c.824+13T>C VV NP_003051.1:p.=
XM_011543590.1:c.206+13T>C XP_011541892.1:p.=
XR_427718.1:n.1184+13T>C
XR_948290.1:n.1165+13T>C
XR_948291.1:n.1178+13T>C
XM_011543590.2:c.206+13T>C XP_011541892.1:p.=
XM_017009778.2:c.296+13T>C XP_016865267.1:p.=
XR_001742215.1:n.1165+13T>C
XR_001742216.1:n.1184+13T>C
XR_427718.2:n.1184+13T>C
XR_948290.2:n.1165+13T>C
XR_948291.2:n.1178+13T>C
ENST00000245407.7:c.824+13T>C ENSP00000245407.3:p.=
ENST00000415928.5:n.593+13T>C ENSP00000388838.1:p.=
ENST00000435065.6:n.896+13T>C ENSP00000402760.2:p.=
ENST00000437841.6:c.*139+13T>C ENSP00000400553.1:p.=
ENST00000448810.5:n.172+13T>C
ENST00000461013.5:n.8246+13T>C