Canonical Allele Identifier: CA360805262

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721182C>A (hg19) ; chr5:g.132385490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385490C>A , CM000667.2:g.132385490C>A	GRCh38
NC_000005.9:g.131721182C>A , CM000667.1:g.131721182C>A	GRCh37
NC_000005.8:g.131749081C>A	NCBI36
NG_008982.1:g.20782C>A
NG_008982.2:g.20787C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1176C>A	ENSP00000388838.2:n.665+1176C>A
ENST00000435065.7:c.887C>A	ENSP00000402760.2:p.Ala296Glu
ENST00000448810.6:c.815C>A	ENSP00000401860.2:p.Ala272Glu
ENST00000686757.1:c.834C>A	ENSP00000510721.1:p.Gly278=
ENST00000687740.1:n.1975C>A
ENST00000688151.1:n.2007C>A
ENST00000689271.1:c.671+1170C>A	ENSP00000510797.1:n.671+1170C>A
ENST00000690900.1:c.786C>A	ENSP00000510703.1:p.Gly262=
ENST00000692212.1:n.641C>A
ENST00000692355.1:c.204+1189C>A
ENST00000692413.1:c.834C>A	ENSP00000509374.1:p.Gly278=
ENST00000692825.1:c.883C>A	ENSP00000509447.1:n.883C>A
ENST00000693308.1:c.828C>A	ENSP00000509770.1:p.Gly276=
ENST00000693763.1:n.1975C>A
ENST00000245407.8:c.815C>A MANE Select	ENSP00000245407.3:p.Ala272Glu
ENST00000245407.7:c.815C>A	ENSP00000245407.3:p.Ala272Glu
ENST00000415928.5:c.584C>A	ENSP00000388838.1:p.Ala195Glu
ENST00000435065.6:c.887C>A	ENSP00000402760.2:p.Ala296Glu
ENST00000437841.6:c.*130C>A	ENSP00000400553.1:n.*130C>A
ENST00000448810.5:c.163C>A
ENST00000461013.5:n.8237C>A
NM_001308122.1:c.887C>A	NP_001295051.1:p.Ala296Glu
NM_003060.3:c.815C>A	NP_003051.1:p.Ala272Glu
XM_011543590.1:c.197C>A	XP_011541892.1:p.Ala66Glu
XR_427718.1:n.1175C>A
XR_948290.1:n.1156C>A
XR_948291.1:n.1169C>A
XM_011543590.2:c.197C>A	XP_011541892.1:p.Ala66Glu
XM_017009778.2:c.287C>A	XP_016865267.1:p.Ala96Glu
XR_001742215.1:n.1156C>A
XR_001742216.1:n.1175C>A
XR_427718.2:n.1175C>A
XR_948290.2:n.1156C>A
XR_948291.2:n.1169C>A
NM_003060.4:c.815C>A MANE Select	NP_003051.1:p.Ala272Glu
NM_001308122.2:c.887C>A	NP_001295051.1:p.Ala296Glu