Canonical Allele Identifier: CA1583150006

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390764G= , CM000667.2:g.132390764G=	GRCh38
NC_000005.9:g.131726456G= , CM000667.1:g.131726456G=	GRCh37
NC_000005.8:g.131754355G=	NCBI36
NG_008982.1:g.26056G=
NG_008982.2:g.26061G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.968G=	ENSP00000388838.2:p.Cys323=
ENST00000435065.7:c.1199G=	ENSP00000402760.2:p.Cys400=
ENST00000448810.6:c.1053-12G=	ENSP00000401860.2:n.1053-12G=
ENST00000685543.1:n.1268G=
ENST00000686757.1:c.*291G=	ENSP00000510721.1:n.*291G=
ENST00000687740.1:n.3812G=
ENST00000688151.1:n.2437G=
ENST00000689271.1:c.974G=	ENSP00000510797.1:p.Cys325=
ENST00000690900.1:c.*291G=	ENSP00000510703.1:n.*291G=
ENST00000692212.1:n.2739G=
ENST00000692355.1:c.380G=
ENST00000692413.1:c.1109G=	ENSP00000509374.1:p.Cys370=
ENST00000692825.1:c.1195G=	ENSP00000509447.1:n.1195G=
ENST00000693308.1:c.1175G=	ENSP00000509770.1:p.Cys392=
ENST00000693763.1:n.2287G=
ENST00000245407.8:c.1127G= MANE Select	ENSP00000245407.3:p.Cys376=
ENST00000245407.7:c.1127G=	ENSP00000245407.3:p.Cys376=
ENST00000435065.6:c.1199G=	ENSP00000402760.2:p.Cys400=
ENST00000447841.5:c.112-1669G=
ENST00000448810.5:c.401-12G=
ENST00000461013.5:n.8549G=
ENST00000475308.1:n.1805G=
ENST00000479605.5:n.230G=
NM_001308122.1:c.1199G=	NP_001295051.1:p.Cys400=
NM_003060.3:c.1127G=	NP_003051.1:p.Cys376=
XM_011543590.1:c.509G=	XP_011541892.1:p.Cys170=
XR_427718.1:n.1487G=
XR_948290.1:n.1394-1669G=
XR_948291.1:n.1481G=
XM_011543590.2:c.509G=	XP_011541892.1:p.Cys170=
XM_017009778.2:c.599G=	XP_016865267.1:p.Cys200=
XR_001742215.1:n.1394-12G=
XR_001742216.1:n.1413-12G=
XR_427718.2:n.1487G=
XR_948290.2:n.1394-1669G=
XR_948291.2:n.1481G=
NM_003060.4:c.1127G= MANE Select	NP_003051.1:p.Cys376=
NM_001308122.2:c.1199G=	NP_001295051.1:p.Cys400=