Canonical Allele Identifier: CA312958

Gene: SLC22A5

Linked Data

• dbSNP Id: rs753704081
• MyVariant Identifiers: chr5:g.131729434C>A (hg19) ; chr5:g.132393742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393742C>A , CM000667.2:g.132393742C>A	GRCh38
NC_000005.9:g.131729434C>A , CM000667.1:g.131729434C>A	GRCh37
NC_000005.8:g.131757333C>A	NCBI36
NG_008982.1:g.29034C>A
NG_008982.2:g.29039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-443C>A	ENSP00000388838.2:n.1292-443C>A
ENST00000435065.7:c.1589C>A	ENSP00000402760.2:p.Thr530Asn
ENST00000448810.6:c.*369C>A	ENSP00000401860.2:n.*369C>A
ENST00000685543.1:n.1658C>A
ENST00000686757.1:c.*681C>A	ENSP00000510721.1:n.*681C>A
ENST00000686868.1:n.509C>A
ENST00000687740.1:n.4202C>A
ENST00000688151.1:n.2827C>A
ENST00000689271.1:c.1364C>A	ENSP00000510797.1:p.Thr455Asn
ENST00000690900.1:c.*681C>A	ENSP00000510703.1:n.*681C>A
ENST00000692212.1:n.4657C>A
ENST00000692355.1:c.770C>A
ENST00000692413.1:c.1499C>A	ENSP00000509374.1:p.Thr500Asn
ENST00000692825.1:c.1585C>A	ENSP00000509447.1:n.1585C>A
ENST00000693308.1:c.1565C>A	ENSP00000509770.1:p.Thr522Asn
ENST00000693763.1:n.2677C>A
ENST00000245407.8:c.1517C>A MANE Select	ENSP00000245407.3:p.Thr506Asn
ENST00000245407.7:c.1517C>A	ENSP00000245407.3:p.Thr506Asn
ENST00000435065.6:c.1589C>A	ENSP00000402760.2:p.Thr530Asn
ENST00000447841.5:c.361C>A
ENST00000448810.5:c.779C>A
ENST00000461013.5:n.8939C>A
ENST00000475308.1:n.2195C>A
NM_001308122.1:c.1589C>A	NP_001295051.1:p.Thr530Asn
NM_003060.3:c.1517C>A	NP_003051.1:p.Thr506Asn
XM_011543590.1:c.899C>A	XP_011541892.1:p.Thr300Asn
XR_948290.1:n.1643C>A
XM_011543590.2:c.899C>A	XP_011541892.1:p.Thr300Asn
XM_017009778.2:c.989C>A	XP_016865267.1:p.Thr330Asn
XR_001742215.1:n.1772C>A
XR_001742216.1:n.1791C>A
XR_427718.2:n.1877C>A
XR_948290.2:n.1643C>A
XR_948291.2:n.1871C>A
NM_003060.4:c.1517C>A MANE Select	NP_003051.1:p.Thr506Asn
NM_001308122.2:c.1589C>A	NP_001295051.1:p.Thr530Asn