Canonical Allele Identifier: CA1583144458

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393693C= , CM000667.2:g.132393693C=	GRCh38
NC_000005.9:g.131729385C= , CM000667.1:g.131729385C=	GRCh37
NC_000005.8:g.131757284C=	NCBI36
NG_008982.1:g.28985C=
NG_008982.2:g.28990C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-492C=	ENSP00000388838.2:n.1292-492C=
ENST00000435065.7:c.1540C=	ENSP00000402760.2:p.Leu514=
ENST00000448810.6:c.*320C=	ENSP00000401860.2:n.*320C=
ENST00000685543.1:n.1609C=
ENST00000686757.1:c.*632C=	ENSP00000510721.1:n.*632C=
ENST00000686868.1:n.460C=
ENST00000687740.1:n.4153C=
ENST00000688151.1:n.2778C=
ENST00000689271.1:c.1315C=	ENSP00000510797.1:p.Leu439=
ENST00000690900.1:c.*632C=	ENSP00000510703.1:n.*632C=
ENST00000692212.1:n.4608C=
ENST00000692355.1:c.721C=
ENST00000692413.1:c.1450C=	ENSP00000509374.1:p.Leu484=
ENST00000692825.1:c.1536C=	ENSP00000509447.1:n.1536C=
ENST00000693308.1:c.1516C=	ENSP00000509770.1:p.Leu506=
ENST00000693763.1:n.2628C=
ENST00000245407.8:c.1468C= MANE Select	ENSP00000245407.3:p.Leu490=
ENST00000245407.7:c.1468C=	ENSP00000245407.3:p.Leu490=
ENST00000435065.6:c.1540C=	ENSP00000402760.2:p.Leu514=
ENST00000447841.5:c.312C=
ENST00000448810.5:c.730C=
ENST00000461013.5:n.8890C=
ENST00000475308.1:n.2146C=
NM_001308122.1:c.1540C=	NP_001295051.1:p.Leu514=
NM_003060.3:c.1468C=	NP_003051.1:p.Leu490=
XM_011543590.1:c.850C=	XP_011541892.1:p.Leu284=
XR_948290.1:n.1594C=
XM_011543590.2:c.850C=	XP_011541892.1:p.Leu284=
XM_017009778.2:c.940C=	XP_016865267.1:p.Leu314=
XR_001742215.1:n.1723C=
XR_001742216.1:n.1742C=
XR_427718.2:n.1828C=
XR_948290.2:n.1594C=
XR_948291.2:n.1822C=
NM_003060.4:c.1468C= MANE Select	NP_003051.1:p.Leu490=
NM_001308122.2:c.1540C=	NP_001295051.1:p.Leu514=