Canonical Allele Identifier: CA360809589

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 955636
• ClinVar RCV Id: RCV001228316
• dbSNP Id: rs1752782020
• MyVariant Identifiers: chr5:g.131729376G>A (hg19) ; chr5:g.132393684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393684G>A , CM000667.2:g.132393684G>A	GRCh38
NC_000005.9:g.131729376G>A , CM000667.1:g.131729376G>A	GRCh37
NC_000005.8:g.131757275G>A	NCBI36
NG_008982.1:g.28976G>A
NG_008982.2:g.28981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-501G>A	ENSP00000388838.2:n.1292-501G>A
ENST00000435065.7:c.1531G>A	ENSP00000402760.2:p.Asp511Asn
ENST00000448810.6:c.*311G>A	ENSP00000401860.2:n.*311G>A
ENST00000685543.1:n.1600G>A
ENST00000686757.1:c.*623G>A	ENSP00000510721.1:n.*623G>A
ENST00000686868.1:n.451G>A
ENST00000687740.1:n.4144G>A
ENST00000688151.1:n.2769G>A
ENST00000689271.1:c.1306G>A	ENSP00000510797.1:p.Asp436Asn
ENST00000690900.1:c.*623G>A	ENSP00000510703.1:n.*623G>A
ENST00000692212.1:n.4599G>A
ENST00000692355.1:c.712G>A
ENST00000692413.1:c.1441G>A	ENSP00000509374.1:p.Asp481Asn
ENST00000692825.1:c.1527G>A	ENSP00000509447.1:n.1527G>A
ENST00000693308.1:c.1507G>A	ENSP00000509770.1:p.Asp503Asn
ENST00000693763.1:n.2619G>A
ENST00000245407.8:c.1459G>A MANE Select	ENSP00000245407.3:p.Asp487Asn
ENST00000245407.7:c.1459G>A	ENSP00000245407.3:p.Asp487Asn
ENST00000435065.6:c.1531G>A	ENSP00000402760.2:p.Asp511Asn
ENST00000447841.5:c.303G>A
ENST00000448810.5:c.721G>A
ENST00000461013.5:n.8881G>A
ENST00000475308.1:n.2137G>A
NM_001308122.1:c.1531G>A	NP_001295051.1:p.Asp511Asn
NM_003060.3:c.1459G>A	NP_003051.1:p.Asp487Asn
XM_011543590.1:c.841G>A	XP_011541892.1:p.Asp281Asn
XR_948290.1:n.1585G>A
XM_011543590.2:c.841G>A	XP_011541892.1:p.Asp281Asn
XM_017009778.2:c.931G>A	XP_016865267.1:p.Asp311Asn
XR_001742215.1:n.1714G>A
XR_001742216.1:n.1733G>A
XR_427718.2:n.1819G>A
XR_948290.2:n.1585G>A
XR_948291.2:n.1813G>A
NM_003060.4:c.1459G>A MANE Select	NP_003051.1:p.Asp487Asn
NM_001308122.2:c.1531G>A	NP_001295051.1:p.Asp511Asn