Canonical Allele Identifier: CA360807546

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726441A>C (hg19) ; chr5:g.132390749A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390749A>C , CM000667.2:g.132390749A>C	GRCh38
NC_000005.9:g.131726441A>C , CM000667.1:g.131726441A>C	GRCh37
NC_000005.8:g.131754340A>C	NCBI36
NG_008982.1:g.26041A>C
NG_008982.2:g.26046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.953A>C	ENSP00000388838.2:p.Asp318Ala
ENST00000435065.7:c.1184A>C	ENSP00000402760.2:p.Asp395Ala
ENST00000448810.6:c.1053-27A>C	ENSP00000401860.2:n.1053-27A>C
ENST00000685543.1:n.1253A>C
ENST00000686757.1:c.*276A>C	ENSP00000510721.1:n.*276A>C
ENST00000687740.1:n.3797A>C
ENST00000688151.1:n.2422A>C
ENST00000689271.1:c.959A>C	ENSP00000510797.1:p.Asp320Ala
ENST00000690900.1:c.*276A>C	ENSP00000510703.1:n.*276A>C
ENST00000692212.1:n.2724A>C
ENST00000692355.1:c.365A>C
ENST00000692413.1:c.1094A>C	ENSP00000509374.1:p.Asp365Ala
ENST00000692825.1:c.1180A>C	ENSP00000509447.1:n.1180A>C
ENST00000693308.1:c.1160A>C	ENSP00000509770.1:p.Asp387Ala
ENST00000693763.1:n.2272A>C
ENST00000245407.8:c.1112A>C MANE Select	ENSP00000245407.3:p.Asp371Ala
ENST00000245407.7:c.1112A>C	ENSP00000245407.3:p.Asp371Ala
ENST00000435065.6:c.1184A>C	ENSP00000402760.2:p.Asp395Ala
ENST00000447841.5:c.112-1684A>C
ENST00000448810.5:c.401-27A>C
ENST00000461013.5:n.8534A>C
ENST00000475308.1:n.1790A>C
ENST00000479605.5:n.215A>C
NM_001308122.1:c.1184A>C	NP_001295051.1:p.Asp395Ala
NM_003060.3:c.1112A>C	NP_003051.1:p.Asp371Ala
XM_011543590.1:c.494A>C	XP_011541892.1:p.Asp165Ala
XR_427718.1:n.1472A>C
XR_948290.1:n.1394-1684A>C
XR_948291.1:n.1466A>C
XM_011543590.2:c.494A>C	XP_011541892.1:p.Asp165Ala
XM_017009778.2:c.584A>C	XP_016865267.1:p.Asp195Ala
XR_001742215.1:n.1394-27A>C
XR_001742216.1:n.1413-27A>C
XR_427718.2:n.1472A>C
XR_948290.2:n.1394-1684A>C
XR_948291.2:n.1466A>C
NM_003060.4:c.1112A>C MANE Select	NP_003051.1:p.Asp371Ala
NM_001308122.2:c.1184A>C	NP_001295051.1:p.Asp395Ala