Canonical Allele Identifier: CA322277551

Gene: SNAP29

Linked Data

• dbSNP Id: rs543685574
• gnomAD v2: 22-21242522-A-C
• gnomAD v3: 22-20888234-A-C
• gnomAD v4: 22-20888234-A-C
• MyVariant Identifiers: chr22:g.21242522A>C (hg19) ; chr22:g.20888234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20888234A>C , CM000684.2:g.20888234A>C	GRCh38
NC_000022.10:g.21242522A>C , CM000684.1:g.21242522A>C	GRCh37
NC_000022.9:g.19572522A>C	NCBI36
NG_012152.1:g.34231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.*398A>C MANE Select	ENSP00000215730.6:n.*398A>C
ENST00000215730.11:c.*398A>C	ENSP00000215730.6:n.*398A>C
NM_004782.3:c.*398A>C	NP_004773.1:n.*398A>C
NM_004782.4:c.*398A>C MANE Select	NP_004773.1:n.*398A>C