Canonical Allele Identifier: CA2004810566

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307307A= , CM000673.2:g.121307307A=	GRCh38
NC_000011.9:g.121178016A= , CM000673.1:g.121178016A=	GRCh37
NC_000011.8:g.120683226A=	NCBI36
NG_009446.1:g.19629A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.695A= MANE Select	ENSP00000264027.4:p.His232=
ENST00000264027.8:c.695A=	ENSP00000264027.4:p.His232=
ENST00000392789.2:c.695A=	ENSP00000376539.2:p.His232=
ENST00000527183.1:n.988A=
ENST00000534230.5:c.631+64A=	ENSP00000432550.1:n.631+64A=
NM_001024956.2:c.695A=	NP_001020127.1:p.His232=
NM_006918.4:c.695A=	NP_008849.2:p.His232=
NM_006918.5:c.695A= MANE Select	NP_008849.2:p.His232=
NM_001024956.3:c.695A=	NP_001020127.1:p.His232=