Canonical Allele Identifier: CA1583146195

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387050C= , CM000667.2:g.132387050C=	GRCh38
NC_000005.9:g.131722742C= , CM000667.1:g.131722742C=	GRCh37
NC_000005.8:g.131750641C=	NCBI36
NG_008982.1:g.22342C=
NG_008982.2:g.22347C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.691C=	ENSP00000388838.2:p.Leu231=
ENST00000435065.7:c.922C=	ENSP00000402760.2:p.Leu308=
ENST00000448810.6:c.850C=	ENSP00000401860.2:p.Leu284=
ENST00000686757.1:c.*14C=	ENSP00000510721.1:n.*14C=
ENST00000687740.1:n.3535C=
ENST00000688151.1:n.2160C=
ENST00000689271.1:c.697C=	ENSP00000510797.1:p.Leu233=
ENST00000690900.1:c.*14C=	ENSP00000510703.1:n.*14C=
ENST00000692212.1:n.794C=
ENST00000692355.1:c.205-1871C=
ENST00000692413.1:c.844-12C=	ENSP00000509374.1:n.844-12C=
ENST00000692825.1:c.918C=	ENSP00000509447.1:n.918C=
ENST00000693308.1:c.898C=	ENSP00000509770.1:p.Leu300=
ENST00000693763.1:n.2010C=
ENST00000245407.8:c.850C= MANE Select	ENSP00000245407.3:p.Leu284=
ENST00000245407.7:c.850C=	ENSP00000245407.3:p.Leu284=
ENST00000415928.5:c.619C=	ENSP00000388838.1:p.Leu207=
ENST00000435065.6:c.922C=	ENSP00000402760.2:p.Leu308=
ENST00000437841.6:c.*165C=	ENSP00000400553.1:n.*165C=
ENST00000448810.5:c.198C=
ENST00000461013.5:n.8272C=
NM_001308122.1:c.922C=	NP_001295051.1:p.Leu308=
NM_003060.3:c.850C=	NP_003051.1:p.Leu284=
XM_011543590.1:c.232C=	XP_011541892.1:p.Leu78=
XR_427718.1:n.1210C=
XR_948290.1:n.1191C=
XR_948291.1:n.1204C=
XM_011543590.2:c.232C=	XP_011541892.1:p.Leu78=
XM_017009778.2:c.322C=	XP_016865267.1:p.Leu108=
XR_001742215.1:n.1191C=
XR_001742216.1:n.1210C=
XR_427718.2:n.1210C=
XR_948290.2:n.1191C=
XR_948291.2:n.1204C=
NM_003060.4:c.850C= MANE Select	NP_003051.1:p.Leu284=
NM_001308122.2:c.922C=	NP_001295051.1:p.Leu308=