Canonical Allele Identifier: CA360807543

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726440G>A (hg19) ; chr5:g.132390748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390748G>A , CM000667.2:g.132390748G>A	GRCh38
NC_000005.9:g.131726440G>A , CM000667.1:g.131726440G>A	GRCh37
NC_000005.8:g.131754339G>A	NCBI36
NG_008982.1:g.26040G>A
NG_008982.2:g.26045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.952G>A	ENSP00000388838.2:p.Asp318Asn
ENST00000435065.7:c.1183G>A	ENSP00000402760.2:p.Asp395Asn
ENST00000448810.6:c.1053-28G>A	ENSP00000401860.2:n.1053-28G>A
ENST00000685543.1:n.1252G>A
ENST00000686757.1:c.*275G>A	ENSP00000510721.1:n.*275G>A
ENST00000687740.1:n.3796G>A
ENST00000688151.1:n.2421G>A
ENST00000689271.1:c.958G>A	ENSP00000510797.1:p.Asp320Asn
ENST00000690900.1:c.*275G>A	ENSP00000510703.1:n.*275G>A
ENST00000692212.1:n.2723G>A
ENST00000692355.1:c.364G>A
ENST00000692413.1:c.1093G>A	ENSP00000509374.1:p.Asp365Asn
ENST00000692825.1:c.1179G>A	ENSP00000509447.1:n.1179G>A
ENST00000693308.1:c.1159G>A	ENSP00000509770.1:p.Asp387Asn
ENST00000693763.1:n.2271G>A
ENST00000245407.8:c.1111G>A MANE Select	ENSP00000245407.3:p.Asp371Asn
ENST00000245407.7:c.1111G>A	ENSP00000245407.3:p.Asp371Asn
ENST00000435065.6:c.1183G>A	ENSP00000402760.2:p.Asp395Asn
ENST00000447841.5:c.112-1685G>A
ENST00000448810.5:c.401-28G>A
ENST00000461013.5:n.8533G>A
ENST00000475308.1:n.1789G>A
ENST00000479605.5:n.214G>A
NM_001308122.1:c.1183G>A	NP_001295051.1:p.Asp395Asn
NM_003060.3:c.1111G>A	NP_003051.1:p.Asp371Asn
XM_011543590.1:c.493G>A	XP_011541892.1:p.Asp165Asn
XR_427718.1:n.1471G>A
XR_948290.1:n.1394-1685G>A
XR_948291.1:n.1465G>A
XM_011543590.2:c.493G>A	XP_011541892.1:p.Asp165Asn
XM_017009778.2:c.583G>A	XP_016865267.1:p.Asp195Asn
XR_001742215.1:n.1394-28G>A
XR_001742216.1:n.1413-28G>A
XR_427718.2:n.1471G>A
XR_948290.2:n.1394-1685G>A
XR_948291.2:n.1465G>A
NM_003060.4:c.1111G>A MANE Select	NP_003051.1:p.Asp371Asn
NM_001308122.2:c.1183G>A	NP_001295051.1:p.Asp395Asn