Canonical Allele Identifier: CA322277496
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs913695397
gnomAD v3: 22-20888103-C-A
gnomAD v4: 22-20888103-C-A
MyVariant Identifiers: chr22:g.21242391C>A (hg19) chr22:g.20888103C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888103C>A , CM000684.2:g.20888103C>A GRCh38
NC_000022.10:g.21242391C>A , CM000684.1:g.21242391C>A GRCh37
NC_000022.9:g.19572391C>A NCBI36
NG_012152.1:g.34100C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000215730.12:c.*267C>A MANE Select ENSP00000215730.6:n.*267C>A
ENST00000215730.11:c.*267C>A ENSP00000215730.6:n.*267C>A
NM_004782.3:c.*267C>A NP_004773.1:n.*267C>A
NM_004782.4:c.*267C>A MANE Select NP_004773.1:n.*267C>A
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