Canonical Allele Identifier: CA1583144424

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393684G= , CM000667.2:g.132393684G=	GRCh38
NC_000005.9:g.131729376G= , CM000667.1:g.131729376G=	GRCh37
NC_000005.8:g.131757275G=	NCBI36
NG_008982.1:g.28976G=
NG_008982.2:g.28981G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-501G=	ENSP00000388838.2:n.1292-501G=
ENST00000435065.7:c.1531G=	ENSP00000402760.2:p.Asp511=
ENST00000448810.6:c.*311G=	ENSP00000401860.2:n.*311G=
ENST00000685543.1:n.1600G=
ENST00000686757.1:c.*623G=	ENSP00000510721.1:n.*623G=
ENST00000686868.1:n.451G=
ENST00000687740.1:n.4144G=
ENST00000688151.1:n.2769G=
ENST00000689271.1:c.1306G=	ENSP00000510797.1:p.Asp436=
ENST00000690900.1:c.*623G=	ENSP00000510703.1:n.*623G=
ENST00000692212.1:n.4599G=
ENST00000692355.1:c.712G=
ENST00000692413.1:c.1441G=	ENSP00000509374.1:p.Asp481=
ENST00000692825.1:c.1527G=	ENSP00000509447.1:n.1527G=
ENST00000693308.1:c.1507G=	ENSP00000509770.1:p.Asp503=
ENST00000693763.1:n.2619G=
ENST00000245407.8:c.1459G= MANE Select	ENSP00000245407.3:p.Asp487=
ENST00000245407.7:c.1459G=	ENSP00000245407.3:p.Asp487=
ENST00000435065.6:c.1531G=	ENSP00000402760.2:p.Asp511=
ENST00000447841.5:c.303G=
ENST00000448810.5:c.721G=
ENST00000461013.5:n.8881G=
ENST00000475308.1:n.2137G=
NM_001308122.1:c.1531G=	NP_001295051.1:p.Asp511=
NM_003060.3:c.1459G=	NP_003051.1:p.Asp487=
XM_011543590.1:c.841G=	XP_011541892.1:p.Asp281=
XR_948290.1:n.1585G=
XM_011543590.2:c.841G=	XP_011541892.1:p.Asp281=
XM_017009778.2:c.931G=	XP_016865267.1:p.Asp311=
XR_001742215.1:n.1714G=
XR_001742216.1:n.1733G=
XR_427718.2:n.1819G=
XR_948290.2:n.1585G=
XR_948291.2:n.1813G=
NM_003060.4:c.1459G= MANE Select	NP_003051.1:p.Asp487=
NM_001308122.2:c.1531G=	NP_001295051.1:p.Asp511=