Canonical Allele Identifier: CA1583144533

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393746G= , CM000667.2:g.132393746G=	GRCh38
NC_000005.9:g.131729438G= , CM000667.1:g.131729438G=	GRCh37
NC_000005.8:g.131757337G=	NCBI36
NG_008982.1:g.29038G=
NG_008982.2:g.29043G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-439G=	ENSP00000388838.2:n.1292-439G=
ENST00000435065.7:c.1593G=	ENSP00000402760.2:p.Leu531=
ENST00000448810.6:c.*373G=	ENSP00000401860.2:n.*373G=
ENST00000685543.1:n.1662G=
ENST00000686757.1:c.*685G=	ENSP00000510721.1:n.*685G=
ENST00000686868.1:n.513G=
ENST00000687740.1:n.4206G=
ENST00000688151.1:n.2831G=
ENST00000689271.1:c.1368G=	ENSP00000510797.1:p.Leu456=
ENST00000690900.1:c.*685G=	ENSP00000510703.1:n.*685G=
ENST00000692212.1:n.4661G=
ENST00000692355.1:c.774G=
ENST00000692413.1:c.1503G=	ENSP00000509374.1:p.Leu501=
ENST00000692825.1:c.1589G=	ENSP00000509447.1:n.1589G=
ENST00000693308.1:c.1569G=	ENSP00000509770.1:p.Leu523=
ENST00000693763.1:n.2681G=
ENST00000245407.8:c.1521G= MANE Select	ENSP00000245407.3:p.Leu507=
ENST00000245407.7:c.1521G=	ENSP00000245407.3:p.Leu507=
ENST00000435065.6:c.1593G=	ENSP00000402760.2:p.Leu531=
ENST00000447841.5:c.365G=
ENST00000448810.5:c.783G=
ENST00000461013.5:n.8943G=
ENST00000475308.1:n.2199G=
NM_001308122.1:c.1593G=	NP_001295051.1:p.Leu531=
NM_003060.3:c.1521G=	NP_003051.1:p.Leu507=
XM_011543590.1:c.903G=	XP_011541892.1:p.Leu301=
XR_948290.1:n.1647G=
XM_011543590.2:c.903G=	XP_011541892.1:p.Leu301=
XM_017009778.2:c.993G=	XP_016865267.1:p.Leu331=
XR_001742215.1:n.1776G=
XR_001742216.1:n.1795G=
XR_427718.2:n.1881G=
XR_948290.2:n.1647G=
XR_948291.2:n.1875G=
NM_003060.4:c.1521G= MANE Select	NP_003051.1:p.Leu507=
NM_001308122.2:c.1593G=	NP_001295051.1:p.Leu531=