Canonical Allele Identifier: CA10623663

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352333
• ClinVar RCV Id: RCV000272019 ; RCV000329477
• dbSNP Id: rs886060286
• gnomAD v4: 5-156594918-T-C
• MyVariant Identifiers: chr5:g.156021928T>C (hg19) ; chr5:g.156594918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594918T>C , CM000667.2:g.156594918T>C	GRCh38
NC_000005.9:g.156021928T>C , CM000667.1:g.156021928T>C	GRCh37
NC_000005.8:g.155954506T>C	NCBI36
NG_008693.2:g.729575T>C , LRG_205:g.729575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.383-14T>C MANE Select	ENSP00000338343.4:n.383-14T>C
ENST00000337851.8:c.383-14T>C	ENSP00000338343.4:n.383-14T>C
ENST00000435422.7:c.380-14T>C	ENSP00000403003.2:n.380-14T>C
ENST00000517913.5:c.383-14T>C	ENSP00000429378.1:n.383-14T>C
NM_000337.5:c.383-14T>C , LRG_205t1:c.383-14T>C	NP_000328.2:n.383-14T>C
NM_001128209.1:c.380-14T>C	NP_001121681.1:n.380-14T>C
NM_172244.2:c.383-14T>C	NP_758447.1:n.383-14T>C
XM_005265966.3:c.383-14T>C	XP_005266023.1:n.383-14T>C
XM_005265967.1:c.383-14T>C	XP_005266024.1:n.383-14T>C
XM_006714911.2:c.383-14T>C	XP_006714974.1:n.383-14T>C
XM_011534621.1:c.380-14T>C	XP_011532923.1:n.380-14T>C
XM_005265966.5:c.383-14T>C	XP_005266023.1:n.383-14T>C
XM_005265967.2:c.383-14T>C	XP_005266024.1:n.383-14T>C
XM_011534621.2:c.380-14T>C	XP_011532923.1:n.380-14T>C
XM_017009723.2:c.383-14T>C	XP_016865212.1:n.383-14T>C
XM_017009724.1:c.383-14T>C	XP_016865213.1:n.383-14T>C
NM_001128209.2:c.380-14T>C	NP_001121681.1:n.380-14T>C
NM_172244.3:c.383-14T>C	NP_758447.1:n.383-14T>C
NM_000337.6:c.383-14T>C MANE Select	NP_000328.2:n.383-14T>C