Canonical Allele Identifier: CA1583144572

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385363T= , CM000667.2:g.132385363T=	GRCh38
NC_000005.9:g.131721055T= , CM000667.1:g.131721055T=	GRCh37
NC_000005.8:g.131748954T=	NCBI36
NG_008982.1:g.20655T=
NG_008982.2:g.20660T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1049T=	ENSP00000388838.2:n.665+1049T=
ENST00000435065.7:c.760T=	ENSP00000402760.2:p.Phe254=
ENST00000448810.6:c.688T=	ENSP00000401860.2:p.Phe230=
ENST00000686757.1:c.707T=	ENSP00000510721.1:p.Ile236=
ENST00000687740.1:n.1848T=
ENST00000688151.1:n.1880T=
ENST00000689271.1:c.671+1043T=	ENSP00000510797.1:n.671+1043T=
ENST00000690900.1:c.672-13T=	ENSP00000510703.1:n.672-13T=
ENST00000692212.1:n.514T=
ENST00000692355.1:c.204+1062T=
ENST00000692413.1:c.707T=	ENSP00000509374.1:p.Ile236=
ENST00000692825.1:c.756T=	ENSP00000509447.1:n.756T=
ENST00000693308.1:c.701T=	ENSP00000509770.1:p.Ile234=
ENST00000693763.1:n.1848T=
ENST00000245407.8:c.688T= MANE Select	ENSP00000245407.3:p.Phe230=
ENST00000245407.7:c.688T=	ENSP00000245407.3:p.Phe230=
ENST00000415928.5:c.457T=	ENSP00000388838.1:p.Phe153=
ENST00000435065.6:c.760T=	ENSP00000402760.2:p.Phe254=
ENST00000437841.6:c.*3T=	ENSP00000400553.1:n.*3T=
ENST00000448810.5:c.36T=
ENST00000461013.5:n.8110T=
NM_001308122.1:c.760T=	NP_001295051.1:p.Phe254=
NM_003060.3:c.688T=	NP_003051.1:p.Phe230=
XM_011543590.1:c.70T=	XP_011541892.1:p.Phe24=
XR_427718.1:n.1048T=
XR_948290.1:n.1029T=
XR_948291.1:n.1042T=
XM_011543590.2:c.70T=	XP_011541892.1:p.Phe24=
XM_017009778.2:c.160T=	XP_016865267.1:p.Phe54=
XR_001742215.1:n.1029T=
XR_001742216.1:n.1048T=
XR_427718.2:n.1048T=
XR_948290.2:n.1029T=
XR_948291.2:n.1042T=
NM_003060.4:c.688T= MANE Select	NP_003051.1:p.Phe230=
NM_001308122.2:c.760T=	NP_001295051.1:p.Phe254=