Canonical Allele Identifier: CA360807503

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726420A>C (hg19) ; chr5:g.132390728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390728A>C , CM000667.2:g.132390728A>C	GRCh38
NC_000005.9:g.131726420A>C , CM000667.1:g.131726420A>C	GRCh37
NC_000005.8:g.131754319A>C	NCBI36
NG_008982.1:g.26020A>C
NG_008982.2:g.26025A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.932A>C	ENSP00000388838.2:p.Asp311Ala
ENST00000435065.7:c.1163A>C	ENSP00000402760.2:p.Asp388Ala
ENST00000448810.6:c.1053-48A>C	ENSP00000401860.2:n.1053-48A>C
ENST00000685543.1:n.1232A>C
ENST00000686757.1:c.*255A>C	ENSP00000510721.1:n.*255A>C
ENST00000687740.1:n.3776A>C
ENST00000688151.1:n.2401A>C
ENST00000689271.1:c.938A>C	ENSP00000510797.1:p.Asp313Ala
ENST00000690900.1:c.*255A>C	ENSP00000510703.1:n.*255A>C
ENST00000692212.1:n.2703A>C
ENST00000692355.1:c.344A>C
ENST00000692413.1:c.1073A>C	ENSP00000509374.1:p.Asp358Ala
ENST00000692825.1:c.1159A>C	ENSP00000509447.1:n.1159A>C
ENST00000693308.1:c.1139A>C	ENSP00000509770.1:p.Asp380Ala
ENST00000693763.1:n.2251A>C
ENST00000245407.8:c.1091A>C MANE Select	ENSP00000245407.3:p.Asp364Ala
ENST00000245407.7:c.1091A>C	ENSP00000245407.3:p.Asp364Ala
ENST00000435065.6:c.1163A>C	ENSP00000402760.2:p.Asp388Ala
ENST00000447841.5:c.112-1705A>C
ENST00000448810.5:c.401-48A>C
ENST00000461013.5:n.8513A>C
ENST00000475308.1:n.1769A>C
ENST00000479605.5:n.194A>C
NM_001308122.1:c.1163A>C	NP_001295051.1:p.Asp388Ala
NM_003060.3:c.1091A>C	NP_003051.1:p.Asp364Ala
XM_011543590.1:c.473A>C	XP_011541892.1:p.Asp158Ala
XR_427718.1:n.1451A>C
XR_948290.1:n.1394-1705A>C
XR_948291.1:n.1445A>C
XM_011543590.2:c.473A>C	XP_011541892.1:p.Asp158Ala
XM_017009778.2:c.563A>C	XP_016865267.1:p.Asp188Ala
XR_001742215.1:n.1394-48A>C
XR_001742216.1:n.1413-48A>C
XR_427718.2:n.1451A>C
XR_948290.2:n.1394-1705A>C
XR_948291.2:n.1445A>C
NM_003060.4:c.1091A>C MANE Select	NP_003051.1:p.Asp364Ala
NM_001308122.2:c.1163A>C	NP_001295051.1:p.Asp388Ala