Canonical Allele Identifier: CA563910399

Gene: SGCD

Linked Data

• dbSNP Id: rs1250658187
• gnomAD v2: 5-155394256-A-G
• gnomAD v3: 5-155967246-A-G
• gnomAD v4: 5-155967246-A-G
• MyVariant Identifiers: chr5:g.155394256A>G (hg19) ; chr5:g.155967246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.155967246A>G , CM000667.2:g.155967246A>G	GRCh38
NC_000005.9:g.155394256A>G , CM000667.1:g.155394256A>G	GRCh37
NC_000005.8:g.155326834A>G	NCBI36
NG_008693.2:g.101903A>G , LRG_205:g.101903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517913.5:c.-282+96822A>G	ENSP00000429378.1:n.-282+96822A>G
XM_017009723.2:c.-208+96822A>G	XP_016865212.1:n.-208+96822A>G
XM_017009724.1:c.-207-156610A>G	XP_016865213.1:n.-207-156610A>G