Canonical Allele Identifier: CA360810140

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132394192-C-A
• MyVariant Identifiers: chr5:g.131729884C>A (hg19) ; chr5:g.132394192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394192C>A , CM000667.2:g.132394192C>A	GRCh38
NC_000005.9:g.131729884C>A , CM000667.1:g.131729884C>A	GRCh37
NC_000005.8:g.131757783C>A	NCBI36
NG_008982.1:g.29484C>A
NG_008982.2:g.29489C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.*3C>A	ENSP00000388838.2:n.*3C>A
ENST00000435065.7:c.1666C>A	ENSP00000402760.2:p.His556Asn
ENST00000448810.6:c.*446C>A	ENSP00000401860.2:n.*446C>A
ENST00000685543.1:n.1735C>A
ENST00000686757.1:c.*758C>A	ENSP00000510721.1:n.*758C>A
ENST00000686868.1:n.586C>A
ENST00000687740.1:n.4279C>A
ENST00000688151.1:n.2904C>A
ENST00000689271.1:c.1441C>A	ENSP00000510797.1:p.His481Asn
ENST00000690900.1:c.*758C>A	ENSP00000510703.1:n.*758C>A
ENST00000692212.1:n.4734C>A
ENST00000692355.1:c.847C>A
ENST00000692413.1:c.1576C>A	ENSP00000509374.1:p.His526Asn
ENST00000692825.1:c.1662C>A	ENSP00000509447.1:n.1662C>A
ENST00000693308.1:c.1642C>A	ENSP00000509770.1:p.His548Asn
ENST00000693763.1:n.2754C>A
ENST00000245407.8:c.1594C>A MANE Select	ENSP00000245407.3:p.His532Asn
ENST00000245407.7:c.1594C>A	ENSP00000245407.3:p.His532Asn
ENST00000435065.6:c.1666C>A	ENSP00000402760.2:p.His556Asn
ENST00000447841.5:c.438C>A
ENST00000461013.5:n.9016C>A
ENST00000475308.1:n.2272C>A
NM_001308122.1:c.1666C>A	NP_001295051.1:p.His556Asn
NM_003060.3:c.1594C>A	NP_003051.1:p.His532Asn
XM_011543590.1:c.976C>A	XP_011541892.1:p.His326Asn
XR_948290.1:n.1720C>A
XM_011543590.2:c.976C>A	XP_011541892.1:p.His326Asn
XM_017009778.2:c.1066C>A	XP_016865267.1:p.His356Asn
XR_001742215.1:n.1849C>A
XR_001742216.1:n.1868C>A
XR_427718.2:n.1954C>A
XR_948290.2:n.1720C>A
XR_948291.2:n.1948C>A
NM_003060.4:c.1594C>A MANE Select	NP_003051.1:p.His532Asn
NM_001308122.2:c.1666C>A	NP_001295051.1:p.His556Asn