Canonical Allele Identifier: CA3403952
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486807
ClinVar RCV Id: RCV002003878
dbSNP Id: rs188698686

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385369A>G , CM000667.2:g.132385369A>G GRCh38
NC_000005.9:g.131721061A>G , CM000667.1:g.131721061A>G GRCh37
NC_000005.8:g.131748960A>G NCBI36
NG_008982.1:g.20661A>G
NG_008982.2:g.20666A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1055A>G ENSP00000388838.2:n.665+1055A>G
ENST00000435065.7:c.766A>G ENSP00000402760.2:p.Thr256Ala
ENST00000448810.6:c.694A>G ENSP00000401860.2:p.Thr232Ala
ENST00000686757.1:c.713A>G ENSP00000510721.1:p.Tyr238Cys
ENST00000687740.1:n.1854A>G
ENST00000688151.1:n.1886A>G
ENST00000689271.1:c.671+1049A>G ENSP00000510797.1:n.671+1049A>G
ENST00000690900.1:c.672-7A>G ENSP00000510703.1:n.672-7A>G
ENST00000692212.1:n.520A>G
ENST00000692355.1:c.204+1068A>G
ENST00000692413.1:c.713A>G ENSP00000509374.1:p.Tyr238Cys
ENST00000692825.1:c.762A>G ENSP00000509447.1:n.762A>G
ENST00000693308.1:c.707A>G ENSP00000509770.1:p.Tyr236Cys
ENST00000693763.1:n.1854A>G
ENST00000245407.8:c.694A>G MANE Select ENSP00000245407.3:p.Thr232Ala
ENST00000245407.7:c.694A>G ENSP00000245407.3:p.Thr232Ala
ENST00000415928.5:c.463A>G ENSP00000388838.1:p.Thr155Ala
ENST00000435065.6:c.766A>G ENSP00000402760.2:p.Thr256Ala
ENST00000437841.6:c.*9A>G ENSP00000400553.1:n.*9A>G
ENST00000448810.5:c.42A>G
ENST00000461013.5:n.8116A>G
NM_001308122.1:c.766A>G NP_001295051.1:p.Thr256Ala
NM_003060.3:c.694A>G NP_003051.1:p.Thr232Ala
XM_011543590.1:c.76A>G XP_011541892.1:p.Thr26Ala
XR_427718.1:n.1054A>G
XR_948290.1:n.1035A>G
XR_948291.1:n.1048A>G
XM_011543590.2:c.76A>G XP_011541892.1:p.Thr26Ala
XM_017009778.2:c.166A>G XP_016865267.1:p.Thr56Ala
XR_001742215.1:n.1035A>G
XR_001742216.1:n.1054A>G
XR_427718.2:n.1054A>G
XR_948290.2:n.1035A>G
XR_948291.2:n.1048A>G
NM_003060.4:c.694A>G MANE Select NP_003051.1:p.Thr232Ala
NM_001308122.2:c.766A>G NP_001295051.1:p.Thr256Ala