Canonical Allele Identifier: CA1583144532

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393745T= , CM000667.2:g.132393745T=	GRCh38
NC_000005.9:g.131729437T= , CM000667.1:g.131729437T=	GRCh37
NC_000005.8:g.131757336T=	NCBI36
NG_008982.1:g.29037T=
NG_008982.2:g.29042T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-440T=	ENSP00000388838.2:n.1292-440T=
ENST00000435065.7:c.1592T=	ENSP00000402760.2:p.Leu531=
ENST00000448810.6:c.*372T=	ENSP00000401860.2:n.*372T=
ENST00000685543.1:n.1661T=
ENST00000686757.1:c.*684T=	ENSP00000510721.1:n.*684T=
ENST00000686868.1:n.512T=
ENST00000687740.1:n.4205T=
ENST00000688151.1:n.2830T=
ENST00000689271.1:c.1367T=	ENSP00000510797.1:p.Leu456=
ENST00000690900.1:c.*684T=	ENSP00000510703.1:n.*684T=
ENST00000692212.1:n.4660T=
ENST00000692355.1:c.773T=
ENST00000692413.1:c.1502T=	ENSP00000509374.1:p.Leu501=
ENST00000692825.1:c.1588T=	ENSP00000509447.1:n.1588T=
ENST00000693308.1:c.1568T=	ENSP00000509770.1:p.Leu523=
ENST00000693763.1:n.2680T=
ENST00000245407.8:c.1520T= MANE Select	ENSP00000245407.3:p.Leu507=
ENST00000245407.7:c.1520T=	ENSP00000245407.3:p.Leu507=
ENST00000435065.6:c.1592T=	ENSP00000402760.2:p.Leu531=
ENST00000447841.5:c.364T=
ENST00000448810.5:c.782T=
ENST00000461013.5:n.8942T=
ENST00000475308.1:n.2198T=
NM_001308122.1:c.1592T=	NP_001295051.1:p.Leu531=
NM_003060.3:c.1520T=	NP_003051.1:p.Leu507=
XM_011543590.1:c.902T=	XP_011541892.1:p.Leu301=
XR_948290.1:n.1646T=
XM_011543590.2:c.902T=	XP_011541892.1:p.Leu301=
XM_017009778.2:c.992T=	XP_016865267.1:p.Leu331=
XR_001742215.1:n.1775T=
XR_001742216.1:n.1794T=
XR_427718.2:n.1880T=
XR_948290.2:n.1646T=
XR_948291.2:n.1874T=
NM_003060.4:c.1520T= MANE Select	NP_003051.1:p.Leu507=
NM_001308122.2:c.1592T=	NP_001295051.1:p.Leu531=