Canonical Allele Identifier: CA447388092

Gene: SGCD

Linked Data

• dbSNP Id: rs397517922
• gnomAD v2: 5-156021952-C-A
• MyVariant Identifiers: chr5:g.156021952C>A (hg19) ; chr5:g.156594942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594942C>A , CM000667.2:g.156594942C>A	GRCh38
NC_000005.9:g.156021952C>A , CM000667.1:g.156021952C>A	GRCh37
NC_000005.8:g.155954530C>A	NCBI36
NG_008693.2:g.729599C>A , LRG_205:g.729599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.393C>A MANE Select	ENSP00000338343.4:p.Ala131=
ENST00000337851.8:c.393C>A	ENSP00000338343.4:p.Ala131=
ENST00000435422.7:c.390C>A	ENSP00000403003.2:p.Ala130=
ENST00000517913.5:c.393C>A	ENSP00000429378.1:p.Ala131=
NM_000337.5:c.393C>A , LRG_205t1:c.393C>A	NP_000328.2:p.Ala131=
NM_001128209.1:c.390C>A	NP_001121681.1:p.Ala130=
NM_172244.2:c.393C>A	NP_758447.1:p.Ala131=
XM_005265966.3:c.393C>A	XP_005266023.1:p.Ala131=
XM_005265967.1:c.393C>A	XP_005266024.1:p.Ala131=
XM_006714911.2:c.393C>A	XP_006714974.1:p.Ala131=
XM_011534621.1:c.390C>A	XP_011532923.1:p.Ala130=
XM_005265966.5:c.393C>A	XP_005266023.1:p.Ala131=
XM_005265967.2:c.393C>A	XP_005266024.1:p.Ala131=
XM_011534621.2:c.390C>A	XP_011532923.1:p.Ala130=
XM_017009723.2:c.393C>A	XP_016865212.1:p.Ala131=
XM_017009724.1:c.393C>A	XP_016865213.1:p.Ala131=
NM_001128209.2:c.390C>A	NP_001121681.1:p.Ala130=
NM_172244.3:c.393C>A	NP_758447.1:p.Ala131=
NM_000337.6:c.393C>A MANE Select	NP_000328.2:p.Ala131=