Canonical Allele Identifier: CA631095535
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1376478458
gnomAD v2: 19-2274705-C-T
gnomAD v3: 19-2274706-C-T
gnomAD v4: 19-2274706-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274706C>T , CM000681.2:g.2274706C>T GRCh38
NC_000019.9:g.2274705C>T , CM000681.1:g.2274705C>T GRCh37
NC_000019.8:g.2225705C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*974G>A MANE Select ENSP00000345102.3:n.*974G>A
ENST00000342063.4:c.*974G>A ENSP00000345102.3:n.*974G>A
ENST00000621615.1:c.146+4962C>T ENSP00000481965.1:n.146+4962C>T
NM_198532.2:c.*974G>A NP_940934.1:n.*974G>A
NM_198532.3:c.*974G>A MANE Select NP_940934.1:n.*974G>A