Canonical Allele Identifier: CA2004810582

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307356T= , CM000673.2:g.121307356T=	GRCh38
NC_000011.9:g.121178065T= , CM000673.1:g.121178065T=	GRCh37
NC_000011.8:g.120683275T=	NCBI36
NG_009446.1:g.19678T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.744T= MANE Select	ENSP00000264027.4:p.Asp248=
ENST00000264027.8:c.744T=	ENSP00000264027.4:p.Asp248=
ENST00000392789.2:c.744T=	ENSP00000376539.2:p.Asp248=
ENST00000527183.1:n.1037T=
ENST00000534230.5:c.632-101T=	ENSP00000432550.1:n.632-101T=
NM_001024956.2:c.744T=	NP_001020127.1:p.Asp248=
NM_006918.4:c.744T=	NP_008849.2:p.Asp248=
NM_006918.5:c.744T= MANE Select	NP_008849.2:p.Asp248=
NM_001024956.3:c.744T=	NP_001020127.1:p.Asp248=