Canonical Allele Identifier: CA183561

Gene: SGCD

Linked Data

• ClinVar Variation Id: 179031
• ClinVar RCV Id: RCV000155814 ; RCV000665825 ; RCV001153631
• dbSNP Id: rs184722381
• gnomAD v2: 5-155754253-G-A
• gnomAD v3: 5-156327243-G-A
• gnomAD v4: 5-156327243-G-A
• MyVariant Identifiers: chr5:g.155754253G>A (hg19) ; chr5:g.156327243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156327243G>A , CM000667.2:g.156327243G>A	GRCh38
NC_000005.9:g.155754253G>A , CM000667.1:g.155754253G>A	GRCh37
NC_000005.8:g.155686831G>A	NCBI36
NG_008693.2:g.461900G>A , LRG_205:g.461900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.-44+11G>A MANE Select	ENSP00000338343.4:n.-44+11G>A
ENST00000337851.8:c.-44+11G>A	ENSP00000338343.4:n.-44+11G>A
ENST00000435422.7:c.-1+11G>A	ENSP00000403003.2:n.-1+11G>A
ENST00000517913.5:c.-43-2291G>A	ENSP00000429378.1:n.-43-2291G>A
ENST00000524347.2:c.-44+11G>A	ENSP00000430794.1:n.-44+11G>A
NM_000337.5:c.-44+11G>A , LRG_205t1:c.-44+11G>A	NP_000328.2:n.-44+11G>A
NM_001128209.1:c.-1+11G>A	NP_001121681.1:n.-1+11G>A
NM_172244.2:c.-44+11G>A	NP_758447.1:n.-44+11G>A
XM_005265967.1:c.-44+11G>A	XP_005266024.1:n.-44+11G>A
XM_006714911.2:c.-43-2291G>A	XP_006714974.1:n.-43-2291G>A
XM_011534621.1:c.1-17246G>A	XP_011532923.1:n.1-17246G>A
XR_941123.1:n.254+20210C>T
XM_005265967.2:c.-44+11G>A	XP_005266024.1:n.-44+11G>A
XM_011534621.2:c.1-17246G>A	XP_011532923.1:n.1-17246G>A
XM_017009723.2:c.-43-2291G>A	XP_016865212.1:n.-43-2291G>A
XM_017009724.1:c.-43-2291G>A	XP_016865213.1:n.-43-2291G>A
NM_001128209.2:c.-1+11G>A	NP_001121681.1:n.-1+11G>A
NM_172244.3:c.-44+11G>A	NP_758447.1:n.-44+11G>A
NM_000337.6:c.-44+11G>A MANE Select	NP_000328.2:n.-44+11G>A