Canonical Allele Identifier: CA360806033

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752616522
• MyVariant Identifiers: chr5:g.131724623T>A (hg19) ; chr5:g.132388931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388931T>A , CM000667.2:g.132388931T>A	GRCh38
NC_000005.9:g.131724623T>A , CM000667.1:g.131724623T>A	GRCh37
NC_000005.8:g.131752522T>A	NCBI36
NG_008982.1:g.24223T>A
NG_008982.2:g.24228T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.803T>A	ENSP00000388838.2:p.Leu268Gln
ENST00000435065.7:c.1034T>A	ENSP00000402760.2:p.Leu345Gln
ENST00000448810.6:c.962T>A	ENSP00000401860.2:p.Leu321Gln
ENST00000685543.1:n.1103T>A
ENST00000686757.1:c.*126T>A	ENSP00000510721.1:n.*126T>A
ENST00000687740.1:n.3647T>A
ENST00000688151.1:n.2272T>A
ENST00000689271.1:c.809T>A	ENSP00000510797.1:p.Leu270Gln
ENST00000690900.1:c.*126T>A	ENSP00000510703.1:n.*126T>A
ENST00000692212.1:n.906T>A
ENST00000692355.1:c.215T>A
ENST00000692413.1:c.944T>A	ENSP00000509374.1:p.Leu315Gln
ENST00000692825.1:c.1030T>A	ENSP00000509447.1:n.1030T>A
ENST00000693308.1:c.1010T>A	ENSP00000509770.1:p.Leu337Gln
ENST00000693763.1:n.2122T>A
ENST00000245407.8:c.962T>A MANE Select	ENSP00000245407.3:p.Leu321Gln
ENST00000245407.7:c.962T>A	ENSP00000245407.3:p.Leu321Gln
ENST00000435065.6:c.1034T>A	ENSP00000402760.2:p.Leu345Gln
ENST00000437841.6:c.*277T>A	ENSP00000400553.1:n.*277T>A
ENST00000447841.5:c.21T>A
ENST00000448810.5:c.310T>A
ENST00000461013.5:n.8384T>A
ENST00000479605.5:n.65T>A
NM_001308122.1:c.1034T>A	NP_001295051.1:p.Leu345Gln
NM_003060.3:c.962T>A	NP_003051.1:p.Leu321Gln
XM_011543590.1:c.344T>A	XP_011541892.1:p.Leu115Gln
XR_427718.1:n.1322T>A
XR_948290.1:n.1303T>A
XR_948291.1:n.1316T>A
XM_011543590.2:c.344T>A	XP_011541892.1:p.Leu115Gln
XM_017009778.2:c.434T>A	XP_016865267.1:p.Leu145Gln
XR_001742215.1:n.1303T>A
XR_001742216.1:n.1322T>A
XR_427718.2:n.1322T>A
XR_948290.2:n.1303T>A
XR_948291.2:n.1316T>A
NM_003060.4:c.962T>A MANE Select	NP_003051.1:p.Leu321Gln
NM_001308122.2:c.1034T>A	NP_001295051.1:p.Leu345Gln