Canonical Allele Identifier: CA1583144801

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385494C= , CM000667.2:g.132385494C=	GRCh38
NC_000005.9:g.131721186C= , CM000667.1:g.131721186C=	GRCh37
NC_000005.8:g.131749085C=	NCBI36
NG_008982.1:g.20786C=
NG_008982.2:g.20791C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1180C=	ENSP00000388838.2:n.665+1180C=
ENST00000435065.7:c.891C=	ENSP00000402760.2:p.Leu297=
ENST00000448810.6:c.819C=	ENSP00000401860.2:p.Leu273=
ENST00000686757.1:c.838C=	ENSP00000510721.1:p.Leu280=
ENST00000687740.1:n.1979C=
ENST00000688151.1:n.2011C=
ENST00000689271.1:c.671+1174C=	ENSP00000510797.1:n.671+1174C=
ENST00000690900.1:c.790C=	ENSP00000510703.1:p.Leu264=
ENST00000692212.1:n.645C=
ENST00000692355.1:c.204+1193C=
ENST00000692413.1:c.838C=	ENSP00000509374.1:p.Leu280=
ENST00000692825.1:c.887C=	ENSP00000509447.1:n.887C=
ENST00000693308.1:c.832C=	ENSP00000509770.1:p.Leu278=
ENST00000693763.1:n.1979C=
ENST00000245407.8:c.819C= MANE Select	ENSP00000245407.3:p.Leu273=
ENST00000245407.7:c.819C=	ENSP00000245407.3:p.Leu273=
ENST00000415928.5:c.588C=	ENSP00000388838.1:p.Leu196=
ENST00000435065.6:c.891C=	ENSP00000402760.2:p.Leu297=
ENST00000437841.6:c.*134C=	ENSP00000400553.1:n.*134C=
ENST00000448810.5:c.167C=
ENST00000461013.5:n.8241C=
NM_001308122.1:c.891C=	NP_001295051.1:p.Leu297=
NM_003060.3:c.819C=	NP_003051.1:p.Leu273=
XM_011543590.1:c.201C=	XP_011541892.1:p.Leu67=
XR_427718.1:n.1179C=
XR_948290.1:n.1160C=
XR_948291.1:n.1173C=
XM_011543590.2:c.201C=	XP_011541892.1:p.Leu67=
XM_017009778.2:c.291C=	XP_016865267.1:p.Leu97=
XR_001742215.1:n.1160C=
XR_001742216.1:n.1179C=
XR_427718.2:n.1179C=
XR_948290.2:n.1160C=
XR_948291.2:n.1173C=
NM_003060.4:c.819C= MANE Select	NP_003051.1:p.Leu273=
NM_001308122.2:c.891C=	NP_001295051.1:p.Leu297=