Canonical Allele Identifier: CA1583144792

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385483T= , CM000667.2:g.132385483T=	GRCh38
NC_000005.9:g.131721175T= , CM000667.1:g.131721175T=	GRCh37
NC_000005.8:g.131749074T=	NCBI36
NG_008982.1:g.20775T=
NG_008982.2:g.20780T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1169T=	ENSP00000388838.2:n.665+1169T=
ENST00000435065.7:c.880T=	ENSP00000402760.2:p.Cys294=
ENST00000448810.6:c.808T=	ENSP00000401860.2:p.Cys270=
ENST00000686757.1:c.827T=	ENSP00000510721.1:p.Met276=
ENST00000687740.1:n.1968T=
ENST00000688151.1:n.2000T=
ENST00000689271.1:c.671+1163T=	ENSP00000510797.1:n.671+1163T=
ENST00000690900.1:c.779T=	ENSP00000510703.1:p.Met260=
ENST00000692212.1:n.634T=
ENST00000692355.1:c.204+1182T=
ENST00000692413.1:c.827T=	ENSP00000509374.1:p.Met276=
ENST00000692825.1:c.876T=	ENSP00000509447.1:n.876T=
ENST00000693308.1:c.821T=	ENSP00000509770.1:p.Met274=
ENST00000693763.1:n.1968T=
ENST00000245407.8:c.808T= MANE Select	ENSP00000245407.3:p.Cys270=
ENST00000245407.7:c.808T=	ENSP00000245407.3:p.Cys270=
ENST00000415928.5:c.577T=	ENSP00000388838.1:p.Cys193=
ENST00000435065.6:c.880T=	ENSP00000402760.2:p.Cys294=
ENST00000437841.6:c.*123T=	ENSP00000400553.1:n.*123T=
ENST00000448810.5:c.156T=
ENST00000461013.5:n.8230T=
NM_001308122.1:c.880T=	NP_001295051.1:p.Cys294=
NM_003060.3:c.808T=	NP_003051.1:p.Cys270=
XM_011543590.1:c.190T=	XP_011541892.1:p.Cys64=
XR_427718.1:n.1168T=
XR_948290.1:n.1149T=
XR_948291.1:n.1162T=
XM_011543590.2:c.190T=	XP_011541892.1:p.Cys64=
XM_017009778.2:c.280T=	XP_016865267.1:p.Cys94=
XR_001742215.1:n.1149T=
XR_001742216.1:n.1168T=
XR_427718.2:n.1168T=
XR_948290.2:n.1149T=
XR_948291.2:n.1162T=
NM_003060.4:c.808T= MANE Select	NP_003051.1:p.Cys270=
NM_001308122.2:c.880T=	NP_001295051.1:p.Cys294=