Canonical Allele Identifier: CA360808686

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1177G>C	ENSP00000388838.2:p.Val393Leu
ENST00000435065.7:c.1408G>C	ENSP00000402760.2:p.Val470Leu
ENST00000448810.6:c.*188G>C	ENSP00000401860.2:n.*188G>C
ENST00000685543.1:n.1477G>C
ENST00000686757.1:c.*500G>C	ENSP00000510721.1:n.*500G>C
ENST00000687740.1:n.4021G>C
ENST00000688151.1:n.2646G>C
ENST00000689271.1:c.1183G>C	ENSP00000510797.1:p.Val395Leu
ENST00000690900.1:c.*500G>C	ENSP00000510703.1:n.*500G>C
ENST00000692212.1:n.4476G>C
ENST00000692355.1:c.589G>C
ENST00000692413.1:c.1318G>C	ENSP00000509374.1:p.Val440Leu
ENST00000692825.1:c.1404G>C	ENSP00000509447.1:n.1404G>C
ENST00000693308.1:c.1384G>C	ENSP00000509770.1:p.Val462Leu
ENST00000693763.1:n.2496G>C
ENST00000245407.8:c.1336G>C MANE Select	ENSP00000245407.3:p.Val446Leu
ENST00000245407.7:c.1336G>C	ENSP00000245407.3:p.Val446Leu
ENST00000435065.6:c.1408G>C	ENSP00000402760.2:p.Val470Leu
ENST00000447841.5:c.180G>C
ENST00000448810.5:c.598G>C
ENST00000461013.5:n.8758G>C
ENST00000475308.1:n.2014G>C
ENST00000479605.5:n.439G>C
NM_001308122.1:c.1408G>C	NP_001295051.1:p.Val470Leu
NM_003060.3:c.1336G>C	NP_003051.1:p.Val446Leu
XM_011543590.1:c.718G>C	XP_011541892.1:p.Val240Leu
XR_948290.1:n.1462G>C
XM_011543590.2:c.718G>C	XP_011541892.1:p.Val240Leu
XM_017009778.2:c.808G>C	XP_016865267.1:p.Val270Leu
XR_001742215.1:n.1591G>C
XR_001742216.1:n.1610G>C
XR_427718.2:n.1696G>C
XR_948290.2:n.1462G>C
XR_948291.2:n.1690G>C
NM_003060.4:c.1336G>C MANE Select	NP_003051.1:p.Val446Leu
NM_001308122.2:c.1408G>C	NP_001295051.1:p.Val470Leu