Canonical Allele Identifier: CA447387401

Gene: SGCD

Linked Data

• ClinVar Variation Id: 760291
• ClinVar RCV Id: RCV001497598
• dbSNP Id: rs202223676
• MyVariant Identifiers: chr5:g.155771586C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344576C>A , CM000667.2:g.156344576C>A	GRCh38
NC_000005.9:g.155771586C>A , CM000667.1:g.155771586C>A	GRCh37
NC_000005.8:g.155704164C>A	NCBI36
NG_008693.2:g.479233C>A , LRG_205:g.479233C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.91C>A MANE Select	ENSP00000338343.4:p.Arg31=
ENST00000337851.8:c.91C>A	ENSP00000338343.4:p.Arg31=
ENST00000435422.7:c.88C>A	ENSP00000403003.2:p.Arg30=
ENST00000517913.5:c.91C>A	ENSP00000429378.1:p.Arg31=
ENST00000524347.2:c.91C>A	ENSP00000430794.1:p.Arg31=
NM_000337.5:c.91C>A , LRG_205t1:c.91C>A	NP_000328.2:p.Arg31=
NM_001128209.1:c.88C>A	NP_001121681.1:p.Arg30=
NM_172244.2:c.91C>A	NP_758447.1:p.Arg31=
XM_005265966.3:c.91C>A	XP_005266023.1:p.Arg31=
XM_005265967.1:c.91C>A	XP_005266024.1:p.Arg31=
XM_006714911.2:c.91C>A	XP_006714974.1:p.Arg31=
XM_011534621.1:c.88C>A	XP_011532923.1:p.Arg30=
XR_941123.1:n.254+2877G>T
XM_005265966.5:c.91C>A	XP_005266023.1:p.Arg31=
XM_005265967.2:c.91C>A	XP_005266024.1:p.Arg31=
XM_011534621.2:c.88C>A	XP_011532923.1:p.Arg30=
XM_017009723.2:c.91C>A	XP_016865212.1:p.Arg31=
XM_017009724.1:c.91C>A	XP_016865213.1:p.Arg31=
NM_001128209.2:c.88C>A	NP_001121681.1:p.Arg30=
NM_172244.3:c.91C>A	NP_758447.1:p.Arg31=
NM_000337.6:c.91C>A MANE Select	NP_000328.2:p.Arg31=