Canonical Allele Identifier: CA147625
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
MyVariant.info:

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
ENST00000415928.6:c.665+1198T>C ENSP00000388838.2:n.665+1198T>C
ENST00000435065.7:c.896+13T>C ENSP00000402760.2:n.896+13T>C
ENST00000448810.6:c.824+13T>C ENSP00000401860.2:n.824+13T>C
ENST00000686757.1:c.843+13T>C ENSP00000510721.1:n.843+13T>C
ENST00000687740.1:n.1997T>C
ENST00000688151.1:n.2016+13T>C
ENST00000689271.1:c.671+1192T>C ENSP00000510797.1:n.671+1192T>C
ENST00000690900.1:c.795+13T>C ENSP00000510703.1:n.795+13T>C
ENST00000692212.1:n.650+13T>C
ENST00000692355.1:c.204+1211T>C
ENST00000692413.1:c.843+13T>C ENSP00000509374.1:n.843+13T>C
ENST00000692825.1:c.892+13T>C ENSP00000509447.1:n.892+13T>C
ENST00000693308.1:c.837+13T>C ENSP00000509770.1:n.837+13T>C
ENST00000693763.1:n.1984+13T>C
ENST00000245407.8:c.824+13T>C MANE Select ENSP00000245407.3:n.824+13T>C
ENST00000245407.7:c.824+13T>C ENSP00000245407.3:n.824+13T>C
ENST00000415928.5:c.593+13T>C ENSP00000388838.1:n.593+13T>C
ENST00000435065.6:c.896+13T>C ENSP00000402760.2:n.896+13T>C
ENST00000437841.6:c.*139+13T>C ENSP00000400553.1:n.*139+13T>C
ENST00000448810.5:c.172+13T>C
ENST00000461013.5:n.8246+13T>C
NM_001308122.1:c.896+13T>C NP_001295051.1:n.896+13T>C
NM_003060.3:c.824+13T>C NP_003051.1:n.824+13T>C
XM_011543590.1:c.206+13T>C XP_011541892.1:n.206+13T>C
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:n.206+13T>C
XM_017009778.2:c.296+13T>C XP_016865267.1:n.296+13T>C
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
NM_003060.4:c.824+13T>C MANE Select NP_003051.1:n.824+13T>C
NM_001308122.2:c.896+13T>C NP_001295051.1:n.896+13T>C