Canonical Allele Identifier: CA1583144629

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385418T= , CM000667.2:g.132385418T=	GRCh38
NC_000005.9:g.131721110T= , CM000667.1:g.131721110T=	GRCh37
NC_000005.8:g.131749009T=	NCBI36
NG_008982.1:g.20710T=
NG_008982.2:g.20715T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1104T=	ENSP00000388838.2:n.665+1104T=
ENST00000435065.7:c.815T=	ENSP00000402760.2:p.Leu272=
ENST00000448810.6:c.743T=	ENSP00000401860.2:p.Leu248=
ENST00000686757.1:c.762T=	ENSP00000510721.1:p.Thr254=
ENST00000687740.1:n.1903T=
ENST00000688151.1:n.1935T=
ENST00000689271.1:c.671+1098T=	ENSP00000510797.1:n.671+1098T=
ENST00000690900.1:c.714T=	ENSP00000510703.1:p.Thr238=
ENST00000692212.1:n.569T=
ENST00000692355.1:c.204+1117T=
ENST00000692413.1:c.762T=	ENSP00000509374.1:p.Thr254=
ENST00000692825.1:c.811T=	ENSP00000509447.1:n.811T=
ENST00000693308.1:c.756T=	ENSP00000509770.1:p.Thr252=
ENST00000693763.1:n.1903T=
ENST00000245407.8:c.743T= MANE Select	ENSP00000245407.3:p.Leu248=
ENST00000245407.7:c.743T=	ENSP00000245407.3:p.Leu248=
ENST00000415928.5:c.512T=	ENSP00000388838.1:p.Leu171=
ENST00000435065.6:c.815T=	ENSP00000402760.2:p.Leu272=
ENST00000437841.6:c.*58T=	ENSP00000400553.1:n.*58T=
ENST00000448810.5:c.91T=
ENST00000461013.5:n.8165T=
NM_001308122.1:c.815T=	NP_001295051.1:p.Leu272=
NM_003060.3:c.743T=	NP_003051.1:p.Leu248=
XM_011543590.1:c.125T=	XP_011541892.1:p.Leu42=
XR_427718.1:n.1103T=
XR_948290.1:n.1084T=
XR_948291.1:n.1097T=
XM_011543590.2:c.125T=	XP_011541892.1:p.Leu42=
XM_017009778.2:c.215T=	XP_016865267.1:p.Leu72=
XR_001742215.1:n.1084T=
XR_001742216.1:n.1103T=
XR_427718.2:n.1103T=
XR_948290.2:n.1084T=
XR_948291.2:n.1097T=
NM_003060.4:c.743T= MANE Select	NP_003051.1:p.Leu248=
NM_001308122.2:c.815T=	NP_001295051.1:p.Leu272=