Canonical Allele Identifier: CA1583144473

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393707C= , CM000667.2:g.132393707C=	GRCh38
NC_000005.9:g.131729399C= , CM000667.1:g.131729399C=	GRCh37
NC_000005.8:g.131757298C=	NCBI36
NG_008982.1:g.28999C=
NG_008982.2:g.29004C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-478C=	ENSP00000388838.2:n.1292-478C=
ENST00000435065.7:c.1554C=	ENSP00000402760.2:p.Leu518=
ENST00000448810.6:c.*334C=	ENSP00000401860.2:n.*334C=
ENST00000685543.1:n.1623C=
ENST00000686757.1:c.*646C=	ENSP00000510721.1:n.*646C=
ENST00000686868.1:n.474C=
ENST00000687740.1:n.4167C=
ENST00000688151.1:n.2792C=
ENST00000689271.1:c.1329C=	ENSP00000510797.1:p.Leu443=
ENST00000690900.1:c.*646C=	ENSP00000510703.1:n.*646C=
ENST00000692212.1:n.4622C=
ENST00000692355.1:c.735C=
ENST00000692413.1:c.1464C=	ENSP00000509374.1:p.Leu488=
ENST00000692825.1:c.1550C=	ENSP00000509447.1:n.1550C=
ENST00000693308.1:c.1530C=	ENSP00000509770.1:p.Leu510=
ENST00000693763.1:n.2642C=
ENST00000245407.8:c.1482C= MANE Select	ENSP00000245407.3:p.Leu494=
ENST00000245407.7:c.1482C=	ENSP00000245407.3:p.Leu494=
ENST00000435065.6:c.1554C=	ENSP00000402760.2:p.Leu518=
ENST00000447841.5:c.326C=
ENST00000448810.5:c.744C=
ENST00000461013.5:n.8904C=
ENST00000475308.1:n.2160C=
NM_001308122.1:c.1554C=	NP_001295051.1:p.Leu518=
NM_003060.3:c.1482C=	NP_003051.1:p.Leu494=
XM_011543590.1:c.864C=	XP_011541892.1:p.Leu288=
XR_948290.1:n.1608C=
XM_011543590.2:c.864C=	XP_011541892.1:p.Leu288=
XM_017009778.2:c.954C=	XP_016865267.1:p.Leu318=
XR_001742215.1:n.1737C=
XR_001742216.1:n.1756C=
XR_427718.2:n.1842C=
XR_948290.2:n.1608C=
XR_948291.2:n.1836C=
NM_003060.4:c.1482C= MANE Select	NP_003051.1:p.Leu494=
NM_001308122.2:c.1554C=	NP_001295051.1:p.Leu518=