Canonical Allele Identifier: CA1139666958
Gene: SNAP29 HGNC NCBI

Linked Data

ClinVar Variation Id: 902756
ClinVar RCV Id: RCV001149526
dbSNP Id: rs1929076871

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888426T>C , CM000684.2:g.20888426T>C GRCh38
NC_000022.10:g.21242714T>C , CM000684.1:g.21242714T>C GRCh37
NC_000022.9:g.19572714T>C NCBI36
NG_012152.1:g.34423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*590T>C MANE Select ENSP00000215730.6:n.*590T>C
ENST00000215730.11:c.*590T>C ENSP00000215730.6:n.*590T>C
NM_004782.3:c.*590T>C NP_004773.1:n.*590T>C
NM_004782.4:c.*590T>C MANE Select NP_004773.1:n.*590T>C