Canonical Allele Identifier: CA360805095

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721098T>A (hg19) ; chr5:g.132385406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385406T>A , CM000667.2:g.132385406T>A	GRCh38
NC_000005.9:g.131721098T>A , CM000667.1:g.131721098T>A	GRCh37
NC_000005.8:g.131748997T>A	NCBI36
NG_008982.1:g.20698T>A
NG_008982.2:g.20703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1092T>A	ENSP00000388838.2:n.665+1092T>A
ENST00000435065.7:c.803T>A	ENSP00000402760.2:p.Met268Lys
ENST00000448810.6:c.731T>A	ENSP00000401860.2:p.Met244Lys
ENST00000686757.1:c.750T>A	ENSP00000510721.1:p.His250Gln
ENST00000687740.1:n.1891T>A
ENST00000688151.1:n.1923T>A
ENST00000689271.1:c.671+1086T>A	ENSP00000510797.1:n.671+1086T>A
ENST00000690900.1:c.702T>A	ENSP00000510703.1:p.His234Gln
ENST00000692212.1:n.557T>A
ENST00000692355.1:c.204+1105T>A
ENST00000692413.1:c.750T>A	ENSP00000509374.1:p.His250Gln
ENST00000692825.1:c.799T>A	ENSP00000509447.1:n.799T>A
ENST00000693308.1:c.744T>A	ENSP00000509770.1:p.His248Gln
ENST00000693763.1:n.1891T>A
ENST00000245407.8:c.731T>A MANE Select	ENSP00000245407.3:p.Met244Lys
ENST00000245407.7:c.731T>A	ENSP00000245407.3:p.Met244Lys
ENST00000415928.5:c.500T>A	ENSP00000388838.1:p.Met167Lys
ENST00000435065.6:c.803T>A	ENSP00000402760.2:p.Met268Lys
ENST00000437841.6:c.*46T>A	ENSP00000400553.1:n.*46T>A
ENST00000448810.5:c.79T>A
ENST00000461013.5:n.8153T>A
NM_001308122.1:c.803T>A	NP_001295051.1:p.Met268Lys
NM_003060.3:c.731T>A	NP_003051.1:p.Met244Lys
XM_011543590.1:c.113T>A	XP_011541892.1:p.Met38Lys
XR_427718.1:n.1091T>A
XR_948290.1:n.1072T>A
XR_948291.1:n.1085T>A
XM_011543590.2:c.113T>A	XP_011541892.1:p.Met38Lys
XM_017009778.2:c.203T>A	XP_016865267.1:p.Met68Lys
XR_001742215.1:n.1072T>A
XR_001742216.1:n.1091T>A
XR_427718.2:n.1091T>A
XR_948290.2:n.1072T>A
XR_948291.2:n.1085T>A
NM_003060.4:c.731T>A MANE Select	NP_003051.1:p.Met244Lys
NM_001308122.2:c.803T>A	NP_001295051.1:p.Met268Lys