Canonical Allele Identifier: CA2004810508

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307139A= , CM000673.2:g.121307139A=	GRCh38
NC_000011.9:g.121177848A= , CM000673.1:g.121177848A=	GRCh37
NC_000011.8:g.120683058A=	NCBI36
NG_009446.1:g.19461A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.527A= MANE Select	ENSP00000264027.4:p.Gln176=
ENST00000264027.8:c.527A=	ENSP00000264027.4:p.Gln176=
ENST00000392789.2:c.527A=	ENSP00000376539.2:p.Gln176=
ENST00000527183.1:n.820A=
ENST00000528991.1:n.220A=
ENST00000534230.5:c.527A=	ENSP00000432550.1:p.Gln176=
NM_001024956.2:c.527A=	NP_001020127.1:p.Gln176=
NM_006918.4:c.527A=	NP_008849.2:p.Gln176=
NM_006918.5:c.527A= MANE Select	NP_008849.2:p.Gln176=
NM_001024956.3:c.527A=	NP_001020127.1:p.Gln176=