Canonical Allele Identifier: CA992609014
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v3: 19-2274893-A-G
gnomAD v4: 19-2274893-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274893A>G , CM000681.2:g.2274893A>G GRCh38
NC_000019.9:g.2274892A>G , CM000681.1:g.2274892A>G GRCh37
NC_000019.8:g.2225892A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*787T>C MANE Select ENSP00000345102.3:n.*787T>C
ENST00000342063.4:c.*787T>C ENSP00000345102.3:n.*787T>C
ENST00000621615.1:c.146+5149A>G ENSP00000481965.1:n.146+5149A>G
NM_198532.2:c.*787T>C NP_940934.1:n.*787T>C
NM_198532.3:c.*787T>C MANE Select NP_940934.1:n.*787T>C