Canonical Allele Identifier: CA563937583

Gene: SGCD

Linked Data

• dbSNP Id: rs1352908238
• gnomAD v2: 5-156021819-A-G
• gnomAD v3: 5-156594809-A-G
• gnomAD v4: 5-156594809-A-G
• MyVariant Identifiers: chr5:g.156021819A>G (hg19) ; chr5:g.156594809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594809A>G , CM000667.2:g.156594809A>G	GRCh38
NC_000005.9:g.156021819A>G , CM000667.1:g.156021819A>G	GRCh37
NC_000005.8:g.155954397A>G	NCBI36
NG_008693.2:g.729466A>G , LRG_205:g.729466A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.383-123A>G MANE Select	ENSP00000338343.4:n.383-123A>G
ENST00000337851.8:c.383-123A>G	ENSP00000338343.4:n.383-123A>G
ENST00000435422.7:c.380-123A>G	ENSP00000403003.2:n.380-123A>G
ENST00000517913.5:c.383-123A>G	ENSP00000429378.1:n.383-123A>G
NM_000337.5:c.383-123A>G , LRG_205t1:c.383-123A>G	NP_000328.2:n.383-123A>G
NM_001128209.1:c.380-123A>G	NP_001121681.1:n.380-123A>G
NM_172244.2:c.383-123A>G	NP_758447.1:n.383-123A>G
XM_005265966.3:c.383-123A>G	XP_005266023.1:n.383-123A>G
XM_005265967.1:c.383-123A>G	XP_005266024.1:n.383-123A>G
XM_006714911.2:c.383-123A>G	XP_006714974.1:n.383-123A>G
XM_011534621.1:c.380-123A>G	XP_011532923.1:n.380-123A>G
XM_005265966.5:c.383-123A>G	XP_005266023.1:n.383-123A>G
XM_005265967.2:c.383-123A>G	XP_005266024.1:n.383-123A>G
XM_011534621.2:c.380-123A>G	XP_011532923.1:n.380-123A>G
XM_017009723.2:c.383-123A>G	XP_016865212.1:n.383-123A>G
XM_017009724.1:c.383-123A>G	XP_016865213.1:n.383-123A>G
NM_001128209.2:c.380-123A>G	NP_001121681.1:n.380-123A>G
NM_172244.3:c.383-123A>G	NP_758447.1:n.383-123A>G
NM_000337.6:c.383-123A>G MANE Select	NP_000328.2:n.383-123A>G