Canonical Allele Identifier: CA304236668
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs537213697
gnomAD v2: 19-2274669-G-A
gnomAD v3: 19-2274670-G-A
gnomAD v4: 19-2274670-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274670G>A , CM000681.2:g.2274670G>A GRCh38
NC_000019.9:g.2274669G>A , CM000681.1:g.2274669G>A GRCh37
NC_000019.8:g.2225669G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*1010C>T MANE Select ENSP00000345102.3:n.*1010C>T
ENST00000342063.4:c.*1010C>T ENSP00000345102.3:n.*1010C>T
ENST00000621615.1:c.146+4926G>A ENSP00000481965.1:n.146+4926G>A
NM_198532.2:c.*1010C>T NP_940934.1:n.*1010C>T
NM_198532.3:c.*1010C>T MANE Select NP_940934.1:n.*1010C>T