Canonical Allele Identifier: CA1583144491

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393717C= , CM000667.2:g.132393717C=	GRCh38
NC_000005.9:g.131729409C= , CM000667.1:g.131729409C=	GRCh37
NC_000005.8:g.131757308C=	NCBI36
NG_008982.1:g.29009C=
NG_008982.2:g.29014C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-468C=	ENSP00000388838.2:n.1292-468C=
ENST00000435065.7:c.1564C=	ENSP00000402760.2:p.Leu522=
ENST00000448810.6:c.*344C=	ENSP00000401860.2:n.*344C=
ENST00000685543.1:n.1633C=
ENST00000686757.1:c.*656C=	ENSP00000510721.1:n.*656C=
ENST00000686868.1:n.484C=
ENST00000687740.1:n.4177C=
ENST00000688151.1:n.2802C=
ENST00000689271.1:c.1339C=	ENSP00000510797.1:p.Leu447=
ENST00000690900.1:c.*656C=	ENSP00000510703.1:n.*656C=
ENST00000692212.1:n.4632C=
ENST00000692355.1:c.745C=
ENST00000692413.1:c.1474C=	ENSP00000509374.1:p.Leu492=
ENST00000692825.1:c.1560C=	ENSP00000509447.1:n.1560C=
ENST00000693308.1:c.1540C=	ENSP00000509770.1:p.Leu514=
ENST00000693763.1:n.2652C=
ENST00000245407.8:c.1492C= MANE Select	ENSP00000245407.3:p.Leu498=
ENST00000245407.7:c.1492C=	ENSP00000245407.3:p.Leu498=
ENST00000435065.6:c.1564C=	ENSP00000402760.2:p.Leu522=
ENST00000447841.5:c.336C=
ENST00000448810.5:c.754C=
ENST00000461013.5:n.8914C=
ENST00000475308.1:n.2170C=
NM_001308122.1:c.1564C=	NP_001295051.1:p.Leu522=
NM_003060.3:c.1492C=	NP_003051.1:p.Leu498=
XM_011543590.1:c.874C=	XP_011541892.1:p.Leu292=
XR_948290.1:n.1618C=
XM_011543590.2:c.874C=	XP_011541892.1:p.Leu292=
XM_017009778.2:c.964C=	XP_016865267.1:p.Leu322=
XR_001742215.1:n.1747C=
XR_001742216.1:n.1766C=
XR_427718.2:n.1852C=
XR_948290.2:n.1618C=
XR_948291.2:n.1846C=
NM_003060.4:c.1492C= MANE Select	NP_003051.1:p.Leu498=
NM_001308122.2:c.1564C=	NP_001295051.1:p.Leu522=