Canonical Allele Identifier: CA10625435
Gene: SEC63 HGNC NCBI

Linked Data

ClinVar Variation Id: 354818
ClinVar RCV Id: RCV000310824
dbSNP Id: rs577860076
gnomAD v2: 6-108189410-G-A
gnomAD v3: 6-107868206-G-A
gnomAD v4: 6-107868206-G-A
MyVariant Identifiers: chr6:g.108189410G>A (hg19) chr6:g.107868206G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107868206G>A , CM000668.2:g.107868206G>A GRCh38
NC_000006.11:g.108189410G>A , CM000668.1:g.108189410G>A GRCh37
NC_000006.10:g.108296103G>A NCBI36
NG_008270.1:g.95073C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369002.9:c.*3498C>T MANE Select ENSP00000357998.4:n.*3498C>T
ENST00000369002.8:c.*3498C>T ENSP00000357998.4:n.*3498C>T
NM_007214.4:c.*3498C>T NP_009145.1:n.*3498C>T
NM_007214.5:c.*3498C>T MANE Select NP_009145.1:n.*3498C>T
Search 100 bp 5'
Search 100 bp 3'