Canonical Allele Identifier: CA360804965

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721032T>G (hg19) ; chr5:g.132385340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385340T>G , CM000667.2:g.132385340T>G	GRCh38
NC_000005.9:g.131721032T>G , CM000667.1:g.131721032T>G	GRCh37
NC_000005.8:g.131748931T>G	NCBI36
NG_008982.1:g.20632T>G
NG_008982.2:g.20637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1026T>G	ENSP00000388838.2:n.665+1026T>G
ENST00000435065.7:c.737T>G	ENSP00000402760.2:p.Leu246Arg
ENST00000448810.6:c.665T>G	ENSP00000401860.2:p.Leu222Arg
ENST00000686757.1:c.684T>G	ENSP00000510721.1:p.Ser228=
ENST00000687740.1:n.1825T>G
ENST00000688151.1:n.1857T>G
ENST00000689271.1:c.671+1020T>G	ENSP00000510797.1:n.671+1020T>G
ENST00000690900.1:c.672-36T>G	ENSP00000510703.1:n.672-36T>G
ENST00000692212.1:n.491T>G
ENST00000692355.1:c.204+1039T>G
ENST00000692413.1:c.684T>G	ENSP00000509374.1:p.Ser228=
ENST00000692825.1:c.733T>G	ENSP00000509447.1:n.733T>G
ENST00000693308.1:c.678T>G	ENSP00000509770.1:p.Ser226=
ENST00000693763.1:n.1825T>G
ENST00000245407.8:c.665T>G MANE Select	ENSP00000245407.3:p.Leu222Arg
ENST00000245407.7:c.665T>G	ENSP00000245407.3:p.Leu222Arg
ENST00000415928.5:c.434T>G	ENSP00000388838.1:p.Leu145Arg
ENST00000435065.6:c.737T>G	ENSP00000402760.2:p.Leu246Arg
ENST00000437841.6:c.406T>G	ENSP00000400553.1:p.Leu136Val
ENST00000448810.5:c.13T>G
ENST00000461013.5:n.8087T>G
NM_001308122.1:c.737T>G	NP_001295051.1:p.Leu246Arg
NM_003060.3:c.665T>G	NP_003051.1:p.Leu222Arg
XM_011543590.1:c.47T>G	XP_011541892.1:p.Leu16Arg
XR_427718.1:n.1025T>G
XR_948290.1:n.1006T>G
XR_948291.1:n.1019T>G
XM_011543590.2:c.47T>G	XP_011541892.1:p.Leu16Arg
XM_017009778.2:c.137T>G	XP_016865267.1:p.Leu46Arg
XR_001742215.1:n.1006T>G
XR_001742216.1:n.1025T>G
XR_427718.2:n.1025T>G
XR_948290.2:n.1006T>G
XR_948291.2:n.1019T>G
NM_003060.4:c.665T>G MANE Select	NP_003051.1:p.Leu222Arg
NM_001308122.2:c.737T>G	NP_001295051.1:p.Leu246Arg