Canonical Allele Identifier: CA10621132

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354815
• ClinVar RCV Id: RCV000283394
• dbSNP Id: rs181941841
• gnomAD v2: 6-108189406-G-A
• gnomAD v3: 6-107868202-G-A
• gnomAD v4: 6-107868202-G-A
• MyVariant Identifiers: chr6:g.108189406G>A (hg19) ; chr6:g.107868202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107868202G>A , CM000668.2:g.107868202G>A	GRCh38
NC_000006.11:g.108189406G>A , CM000668.1:g.108189406G>A	GRCh37
NC_000006.10:g.108296099G>A	NCBI36
NG_008270.1:g.95077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*3502C>T MANE Select	ENSP00000357998.4:n.*3502C>T
ENST00000369002.8:c.*3502C>T	ENSP00000357998.4:n.*3502C>T
NM_007214.4:c.*3502C>T	NP_009145.1:n.*3502C>T
NM_007214.5:c.*3502C>T MANE Select	NP_009145.1:n.*3502C>T