Canonical Allele Identifier: CA1583144569

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393776C= , CM000667.2:g.132393776C=	GRCh38
NC_000005.9:g.131729468C= , CM000667.1:g.131729468C=	GRCh37
NC_000005.8:g.131757367C=	NCBI36
NG_008982.1:g.29068C=
NG_008982.2:g.29073C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-409C=	ENSP00000388838.2:n.1292-409C=
ENST00000435065.7:c.1623C=	ENSP00000402760.2:p.Leu541=
ENST00000448810.6:c.*403C=	ENSP00000401860.2:n.*403C=
ENST00000685543.1:n.1692C=
ENST00000686757.1:c.*715C=	ENSP00000510721.1:n.*715C=
ENST00000686868.1:n.543C=
ENST00000687740.1:n.4236C=
ENST00000688151.1:n.2861C=
ENST00000689271.1:c.1398C=	ENSP00000510797.1:p.Leu466=
ENST00000690900.1:c.*715C=	ENSP00000510703.1:n.*715C=
ENST00000692212.1:n.4691C=
ENST00000692355.1:c.804C=
ENST00000692413.1:c.1533C=	ENSP00000509374.1:p.Leu511=
ENST00000692825.1:c.1619C=	ENSP00000509447.1:n.1619C=
ENST00000693308.1:c.1599C=	ENSP00000509770.1:p.Leu533=
ENST00000693763.1:n.2711C=
ENST00000245407.8:c.1551C= MANE Select	ENSP00000245407.3:p.Leu517=
ENST00000245407.7:c.1551C=	ENSP00000245407.3:p.Leu517=
ENST00000435065.6:c.1623C=	ENSP00000402760.2:p.Leu541=
ENST00000447841.5:c.395C=
ENST00000448810.5:c.813C=
ENST00000461013.5:n.8973C=
ENST00000475308.1:n.2229C=
NM_001308122.1:c.1623C=	NP_001295051.1:p.Leu541=
NM_003060.3:c.1551C=	NP_003051.1:p.Leu517=
XM_011543590.1:c.933C=	XP_011541892.1:p.Leu311=
XR_948290.1:n.1677C=
XM_011543590.2:c.933C=	XP_011541892.1:p.Leu311=
XM_017009778.2:c.1023C=	XP_016865267.1:p.Leu341=
XR_001742215.1:n.1806C=
XR_001742216.1:n.1825C=
XR_427718.2:n.1911C=
XR_948290.2:n.1677C=
XR_948291.2:n.1905C=
NM_003060.4:c.1551C= MANE Select	NP_003051.1:p.Leu517=
NM_001308122.2:c.1623C=	NP_001295051.1:p.Leu541=