Canonical Allele Identifier: CA360810184

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729896C>A (hg19) ; chr5:g.132394204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394204C>A , CM000667.2:g.132394204C>A	GRCh38
NC_000005.9:g.131729896C>A , CM000667.1:g.131729896C>A	GRCh37
NC_000005.8:g.131757795C>A	NCBI36
NG_008982.1:g.29496C>A
NG_008982.2:g.29501C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.*15C>A	ENSP00000388838.2:n.*15C>A
ENST00000435065.7:c.1678C>A	ENSP00000402760.2:p.Pro560Thr
ENST00000448810.6:c.*458C>A	ENSP00000401860.2:n.*458C>A
ENST00000685543.1:n.1747C>A
ENST00000686757.1:c.*770C>A	ENSP00000510721.1:n.*770C>A
ENST00000686868.1:n.598C>A
ENST00000687740.1:n.4291C>A
ENST00000688151.1:n.2916C>A
ENST00000689271.1:c.1453C>A	ENSP00000510797.1:p.Pro485Thr
ENST00000690900.1:c.*770C>A	ENSP00000510703.1:n.*770C>A
ENST00000692212.1:n.4746C>A
ENST00000692355.1:c.859C>A
ENST00000692413.1:c.1588C>A	ENSP00000509374.1:p.Pro530Thr
ENST00000692825.1:c.1674C>A	ENSP00000509447.1:n.1674C>A
ENST00000693308.1:c.1654C>A	ENSP00000509770.1:p.Pro552Thr
ENST00000693763.1:n.2766C>A
ENST00000245407.8:c.1606C>A MANE Select	ENSP00000245407.3:p.Pro536Thr
ENST00000245407.7:c.1606C>A	ENSP00000245407.3:p.Pro536Thr
ENST00000435065.6:c.1678C>A	ENSP00000402760.2:p.Pro560Thr
ENST00000447841.5:c.450C>A
ENST00000461013.5:n.9028C>A
ENST00000475308.1:n.2284C>A
NM_001308122.1:c.1678C>A	NP_001295051.1:p.Pro560Thr
NM_003060.3:c.1606C>A	NP_003051.1:p.Pro536Thr
XM_011543590.1:c.988C>A	XP_011541892.1:p.Pro330Thr
XR_948290.1:n.1732C>A
XM_011543590.2:c.988C>A	XP_011541892.1:p.Pro330Thr
XM_017009778.2:c.1078C>A	XP_016865267.1:p.Pro360Thr
XR_001742215.1:n.1861C>A
XR_001742216.1:n.1880C>A
XR_427718.2:n.1966C>A
XR_948290.2:n.1732C>A
XR_948291.2:n.1960C>A
NM_003060.4:c.1606C>A MANE Select	NP_003051.1:p.Pro536Thr
NM_001308122.2:c.1678C>A	NP_001295051.1:p.Pro560Thr