Canonical Allele Identifier: CA446338732

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1531555
• ClinVar RCV Id: RCV002092515
• dbSNP Id: rs2126789783
• MyVariant Identifiers: chr5:g.131726511G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390819G>A , CM000667.2:g.132390819G>A	GRCh38
NC_000005.9:g.131726511G>A , CM000667.1:g.131726511G>A	GRCh37
NC_000005.8:g.131754410G>A	NCBI36
NG_008982.1:g.26111G>A
NG_008982.2:g.26116G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1023G>A	ENSP00000388838.2:p.Leu341=
ENST00000435065.7:c.1254G>A	ENSP00000402760.2:p.Leu418=
ENST00000448810.6:c.*34G>A	ENSP00000401860.2:n.*34G>A
ENST00000685543.1:n.1323G>A
ENST00000686757.1:c.*346G>A	ENSP00000510721.1:n.*346G>A
ENST00000687740.1:n.3867G>A
ENST00000688151.1:n.2492G>A
ENST00000689271.1:c.1029G>A	ENSP00000510797.1:p.Leu343=
ENST00000690900.1:c.*346G>A	ENSP00000510703.1:n.*346G>A
ENST00000692212.1:n.2794G>A
ENST00000692355.1:c.435G>A
ENST00000692413.1:c.1164G>A	ENSP00000509374.1:p.Leu388=
ENST00000692825.1:c.1250G>A	ENSP00000509447.1:n.1250G>A
ENST00000693308.1:c.1230G>A	ENSP00000509770.1:p.Leu410=
ENST00000693763.1:n.2342G>A
ENST00000245407.8:c.1182G>A MANE Select	ENSP00000245407.3:p.Leu394=
ENST00000245407.7:c.1182G>A	ENSP00000245407.3:p.Leu394=
ENST00000435065.6:c.1254G>A	ENSP00000402760.2:p.Leu418=
ENST00000447841.5:c.112-1614G>A
ENST00000448810.5:c.444G>A
ENST00000461013.5:n.8604G>A
ENST00000475308.1:n.1860G>A
ENST00000479605.5:n.285G>A
NM_001308122.1:c.1254G>A	NP_001295051.1:p.Leu418=
NM_003060.3:c.1182G>A	NP_003051.1:p.Leu394=
XM_011543590.1:c.564G>A	XP_011541892.1:p.Leu188=
XR_427718.1:n.1542G>A
XR_948290.1:n.1394-1614G>A
XR_948291.1:n.1536G>A
XM_011543590.2:c.564G>A	XP_011541892.1:p.Leu188=
XM_017009778.2:c.654G>A	XP_016865267.1:p.Leu218=
XR_001742215.1:n.1437G>A
XR_001742216.1:n.1456G>A
XR_427718.2:n.1542G>A
XR_948290.2:n.1394-1614G>A
XR_948291.2:n.1536G>A
NM_003060.4:c.1182G>A MANE Select	NP_003051.1:p.Leu394=
NM_001308122.2:c.1254G>A	NP_001295051.1:p.Leu418=