Canonical Allele Identifier: CA360805238

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721170T>A (hg19) ; chr5:g.132385478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385478T>A , CM000667.2:g.132385478T>A	GRCh38
NC_000005.9:g.131721170T>A , CM000667.1:g.131721170T>A	GRCh37
NC_000005.8:g.131749069T>A	NCBI36
NG_008982.1:g.20770T>A
NG_008982.2:g.20775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1164T>A	ENSP00000388838.2:n.665+1164T>A
ENST00000435065.7:c.875T>A	ENSP00000402760.2:p.Val292Glu
ENST00000448810.6:c.803T>A	ENSP00000401860.2:p.Val268Glu
ENST00000686757.1:c.822T>A	ENSP00000510721.1:p.Gly274=
ENST00000687740.1:n.1963T>A
ENST00000688151.1:n.1995T>A
ENST00000689271.1:c.671+1158T>A	ENSP00000510797.1:n.671+1158T>A
ENST00000690900.1:c.774T>A	ENSP00000510703.1:p.Gly258=
ENST00000692212.1:n.629T>A
ENST00000692355.1:c.204+1177T>A
ENST00000692413.1:c.822T>A	ENSP00000509374.1:p.Gly274=
ENST00000692825.1:c.871T>A	ENSP00000509447.1:n.871T>A
ENST00000693308.1:c.816T>A	ENSP00000509770.1:p.Gly272=
ENST00000693763.1:n.1963T>A
ENST00000245407.8:c.803T>A MANE Select	ENSP00000245407.3:p.Val268Glu
ENST00000245407.7:c.803T>A	ENSP00000245407.3:p.Val268Glu
ENST00000415928.5:c.572T>A	ENSP00000388838.1:p.Val191Glu
ENST00000435065.6:c.875T>A	ENSP00000402760.2:p.Val292Glu
ENST00000437841.6:c.*118T>A	ENSP00000400553.1:n.*118T>A
ENST00000448810.5:c.151T>A
ENST00000461013.5:n.8225T>A
NM_001308122.1:c.875T>A	NP_001295051.1:p.Val292Glu
NM_003060.3:c.803T>A	NP_003051.1:p.Val268Glu
XM_011543590.1:c.185T>A	XP_011541892.1:p.Val62Glu
XR_427718.1:n.1163T>A
XR_948290.1:n.1144T>A
XR_948291.1:n.1157T>A
XM_011543590.2:c.185T>A	XP_011541892.1:p.Val62Glu
XM_017009778.2:c.275T>A	XP_016865267.1:p.Val92Glu
XR_001742215.1:n.1144T>A
XR_001742216.1:n.1163T>A
XR_427718.2:n.1163T>A
XR_948290.2:n.1144T>A
XR_948291.2:n.1157T>A
NM_003060.4:c.803T>A MANE Select	NP_003051.1:p.Val268Glu
NM_001308122.2:c.875T>A	NP_001295051.1:p.Val292Glu