Canonical Allele Identifier: CA360809578
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1991606
ClinVar RCV Id: RCV002790746

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393682A>G , CM000667.2:g.132393682A>G GRCh38
NC_000005.9:g.131729374A>G , CM000667.1:g.131729374A>G GRCh37
NC_000005.8:g.131757273A>G NCBI36
NG_008982.1:g.28974A>G
NG_008982.2:g.28979A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-503A>G ENSP00000388838.2:n.1292-503A>G
ENST00000435065.7:c.1529A>G ENSP00000402760.2:p.Tyr510Cys
ENST00000448810.6:c.*309A>G ENSP00000401860.2:n.*309A>G
ENST00000685543.1:n.1598A>G
ENST00000686757.1:c.*621A>G ENSP00000510721.1:n.*621A>G
ENST00000686868.1:n.449A>G
ENST00000687740.1:n.4142A>G
ENST00000688151.1:n.2767A>G
ENST00000689271.1:c.1304A>G ENSP00000510797.1:p.Tyr435Cys
ENST00000690900.1:c.*621A>G ENSP00000510703.1:n.*621A>G
ENST00000692212.1:n.4597A>G
ENST00000692355.1:c.710A>G
ENST00000692413.1:c.1439A>G ENSP00000509374.1:p.Tyr480Cys
ENST00000692825.1:c.1525A>G ENSP00000509447.1:n.1525A>G
ENST00000693308.1:c.1505A>G ENSP00000509770.1:p.Tyr502Cys
ENST00000693763.1:n.2617A>G
ENST00000245407.8:c.1457A>G MANE Select ENSP00000245407.3:p.Tyr486Cys
ENST00000245407.7:c.1457A>G ENSP00000245407.3:p.Tyr486Cys
ENST00000435065.6:c.1529A>G ENSP00000402760.2:p.Tyr510Cys
ENST00000447841.5:c.301A>G
ENST00000448810.5:c.719A>G
ENST00000461013.5:n.8879A>G
ENST00000475308.1:n.2135A>G
ENST00000479605.5:n.560A>G
NM_001308122.1:c.1529A>G NP_001295051.1:p.Tyr510Cys
NM_003060.3:c.1457A>G NP_003051.1:p.Tyr486Cys
XM_011543590.1:c.839A>G XP_011541892.1:p.Tyr280Cys
XR_948290.1:n.1583A>G
XM_011543590.2:c.839A>G XP_011541892.1:p.Tyr280Cys
XM_017009778.2:c.929A>G XP_016865267.1:p.Tyr310Cys
XR_001742215.1:n.1712A>G
XR_001742216.1:n.1731A>G
XR_427718.2:n.1817A>G
XR_948290.2:n.1583A>G
XR_948291.2:n.1811A>G
NM_003060.4:c.1457A>G MANE Select NP_003051.1:p.Tyr486Cys
NM_001308122.2:c.1529A>G NP_001295051.1:p.Tyr510Cys