Canonical Allele Identifier: CA360808683

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728193G>A (hg19) ; chr5:g.132392501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392501G>A , CM000667.2:g.132392501G>A	GRCh38
NC_000005.9:g.131728193G>A , CM000667.1:g.131728193G>A	GRCh37
NC_000005.8:g.131756092G>A	NCBI36
NG_008982.1:g.27793G>A
NG_008982.2:g.27798G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1177G>A	ENSP00000388838.2:p.Val393Ile
ENST00000435065.7:c.1408G>A	ENSP00000402760.2:p.Val470Ile
ENST00000448810.6:c.*188G>A	ENSP00000401860.2:n.*188G>A
ENST00000685543.1:n.1477G>A
ENST00000686757.1:c.*500G>A	ENSP00000510721.1:n.*500G>A
ENST00000687740.1:n.4021G>A
ENST00000688151.1:n.2646G>A
ENST00000689271.1:c.1183G>A	ENSP00000510797.1:p.Val395Ile
ENST00000690900.1:c.*500G>A	ENSP00000510703.1:n.*500G>A
ENST00000692212.1:n.4476G>A
ENST00000692355.1:c.589G>A
ENST00000692413.1:c.1318G>A	ENSP00000509374.1:p.Val440Ile
ENST00000692825.1:c.1404G>A	ENSP00000509447.1:n.1404G>A
ENST00000693308.1:c.1384G>A	ENSP00000509770.1:p.Val462Ile
ENST00000693763.1:n.2496G>A
ENST00000245407.8:c.1336G>A MANE Select	ENSP00000245407.3:p.Val446Ile
ENST00000245407.7:c.1336G>A	ENSP00000245407.3:p.Val446Ile
ENST00000435065.6:c.1408G>A	ENSP00000402760.2:p.Val470Ile
ENST00000447841.5:c.180G>A
ENST00000448810.5:c.598G>A
ENST00000461013.5:n.8758G>A
ENST00000475308.1:n.2014G>A
ENST00000479605.5:n.439G>A
NM_001308122.1:c.1408G>A	NP_001295051.1:p.Val470Ile
NM_003060.3:c.1336G>A	NP_003051.1:p.Val446Ile
XM_011543590.1:c.718G>A	XP_011541892.1:p.Val240Ile
XR_948290.1:n.1462G>A
XM_011543590.2:c.718G>A	XP_011541892.1:p.Val240Ile
XM_017009778.2:c.808G>A	XP_016865267.1:p.Val270Ile
XR_001742215.1:n.1591G>A
XR_001742216.1:n.1610G>A
XR_427718.2:n.1696G>A
XR_948290.2:n.1462G>A
XR_948291.2:n.1690G>A
NM_003060.4:c.1336G>A MANE Select	NP_003051.1:p.Val446Ile
NM_001308122.2:c.1408G>A	NP_001295051.1:p.Val470Ile