Canonical Allele Identifier: CA1583148205

Gene: SLC22A5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.803T=	ENSP00000388838.2:p.Leu268=
ENST00000435065.7:c.1034T=	ENSP00000402760.2:p.Leu345=
ENST00000448810.6:c.962T=	ENSP00000401860.2:p.Leu321=
ENST00000685543.1:n.1103T=
ENST00000686757.1:c.*126T=	ENSP00000510721.1:n.*126T=
ENST00000687740.1:n.3647T=
ENST00000688151.1:n.2272T=
ENST00000689271.1:c.809T=	ENSP00000510797.1:p.Leu270=
ENST00000690900.1:c.*126T=	ENSP00000510703.1:n.*126T=
ENST00000692212.1:n.906T=
ENST00000692355.1:c.215T=
ENST00000692413.1:c.944T=	ENSP00000509374.1:p.Leu315=
ENST00000692825.1:c.1030T=	ENSP00000509447.1:n.1030T=
ENST00000693308.1:c.1010T=	ENSP00000509770.1:p.Leu337=
ENST00000693763.1:n.2122T=
ENST00000245407.8:c.962T= MANE Select	ENSP00000245407.3:p.Leu321=
ENST00000245407.7:c.962T=	ENSP00000245407.3:p.Leu321=
ENST00000435065.6:c.1034T=	ENSP00000402760.2:p.Leu345=
ENST00000437841.6:c.*277T=	ENSP00000400553.1:n.*277T=
ENST00000447841.5:c.21T=
ENST00000448810.5:c.310T=
ENST00000461013.5:n.8384T=
ENST00000479605.5:n.65T=
NM_001308122.1:c.1034T=	NP_001295051.1:p.Leu345=
NM_003060.3:c.962T=	NP_003051.1:p.Leu321=
XM_011543590.1:c.344T=	XP_011541892.1:p.Leu115=
XR_427718.1:n.1322T=
XR_948290.1:n.1303T=
XR_948291.1:n.1316T=
XM_011543590.2:c.344T=	XP_011541892.1:p.Leu115=
XM_017009778.2:c.434T=	XP_016865267.1:p.Leu145=
XR_001742215.1:n.1303T=
XR_001742216.1:n.1322T=
XR_427718.2:n.1322T=
XR_948290.2:n.1303T=
XR_948291.2:n.1316T=
NM_003060.4:c.962T= MANE Select	NP_003051.1:p.Leu321=
NM_001308122.2:c.1034T=	NP_001295051.1:p.Leu345=