Canonical Allele Identifier: CA383030147

Gene: SC5D

Linked Data

• dbSNP Id: rs1176651647
• gnomAD v2: 11-121177964-G-A
• gnomAD v3: 11-121307255-G-A
• gnomAD v4: 11-121307255-G-A
• MyVariant Identifiers: chr11:g.121177964G>A (hg19) ; chr11:g.121307255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307255G>A , CM000673.2:g.121307255G>A	GRCh38
NC_000011.9:g.121177964G>A , CM000673.1:g.121177964G>A	GRCh37
NC_000011.8:g.120683174G>A	NCBI36
NG_009446.1:g.19577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.643G>A MANE Select	ENSP00000264027.4:p.Val215Ile
ENST00000264027.8:c.643G>A	ENSP00000264027.4:p.Val215Ile
ENST00000392789.2:c.643G>A	ENSP00000376539.2:p.Val215Ile
ENST00000527183.1:n.936G>A
ENST00000528991.1:n.336G>A
ENST00000534230.5:c.631+12G>A	ENSP00000432550.1:n.631+12G>A
NM_001024956.2:c.643G>A	NP_001020127.1:p.Val215Ile
NM_006918.4:c.643G>A	NP_008849.2:p.Val215Ile
NM_006918.5:c.643G>A MANE Select	NP_008849.2:p.Val215Ile
NM_001024956.3:c.643G>A	NP_001020127.1:p.Val215Ile