Canonical Allele Identifier: CA10625446

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354819
• ClinVar RCV Id: RCV000344708
• dbSNP Id: rs6933329
• gnomAD v2: 6-108189411-T-C
• gnomAD v3: 6-107868207-T-C
• gnomAD v4: 6-107868207-T-C
• MyVariant Identifiers: chr6:g.108189411T>C (hg19) ; chr6:g.107868207T>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107868207T>C , CM000668.2:g.107868207T>C	GRCh38
NC_000006.11:g.108189411T>C , CM000668.1:g.108189411T>C	GRCh37
NC_000006.10:g.108296104T>C	NCBI36
NG_008270.1:g.95072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*3497A>G MANE Select	ENSP00000357998.4:n.*3497A>G
ENST00000369002.8:c.*3497A>G	ENSP00000357998.4:n.*3497A>G
NM_007214.4:c.*3497A>G	NP_009145.1:n.*3497A>G
NM_007214.5:c.*3497A>G MANE Select	NP_009145.1:n.*3497A>G