Canonical Allele Identifier: CA1583144557

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385352T= , CM000667.2:g.132385352T=	GRCh38
NC_000005.9:g.131721044T= , CM000667.1:g.131721044T=	GRCh37
NC_000005.8:g.131748943T=	NCBI36
NG_008982.1:g.20644T=
NG_008982.2:g.20649T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1038T=	ENSP00000388838.2:n.665+1038T=
ENST00000435065.7:c.749T=	ENSP00000402760.2:p.Val250=
ENST00000448810.6:c.677T=	ENSP00000401860.2:p.Val226=
ENST00000686757.1:c.696T=	ENSP00000510721.1:p.Ser232=
ENST00000687740.1:n.1837T=
ENST00000688151.1:n.1869T=
ENST00000689271.1:c.671+1032T=	ENSP00000510797.1:n.671+1032T=
ENST00000690900.1:c.672-24T=	ENSP00000510703.1:n.672-24T=
ENST00000692212.1:n.503T=
ENST00000692355.1:c.204+1051T=
ENST00000692413.1:c.696T=	ENSP00000509374.1:p.Ser232=
ENST00000692825.1:c.745T=	ENSP00000509447.1:n.745T=
ENST00000693308.1:c.690T=	ENSP00000509770.1:p.Ser230=
ENST00000693763.1:n.1837T=
ENST00000245407.8:c.677T= MANE Select	ENSP00000245407.3:p.Val226=
ENST00000245407.7:c.677T=	ENSP00000245407.3:p.Val226=
ENST00000415928.5:c.446T=	ENSP00000388838.1:p.Val149=
ENST00000435065.6:c.749T=	ENSP00000402760.2:p.Val250=
ENST00000437841.6:c.418T=	ENSP00000400553.1:p.Phe140=
ENST00000448810.5:c.25T=
ENST00000461013.5:n.8099T=
NM_001308122.1:c.749T=	NP_001295051.1:p.Val250=
NM_003060.3:c.677T=	NP_003051.1:p.Val226=
XM_011543590.1:c.59T=	XP_011541892.1:p.Val20=
XR_427718.1:n.1037T=
XR_948290.1:n.1018T=
XR_948291.1:n.1031T=
XM_011543590.2:c.59T=	XP_011541892.1:p.Val20=
XM_017009778.2:c.149T=	XP_016865267.1:p.Val50=
XR_001742215.1:n.1018T=
XR_001742216.1:n.1037T=
XR_427718.2:n.1037T=
XR_948290.2:n.1018T=
XR_948291.2:n.1031T=
NM_003060.4:c.677T= MANE Select	NP_003051.1:p.Val226=
NM_001308122.2:c.749T=	NP_001295051.1:p.Val250=