Canonical Allele Identifier: CA304236849
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs893411576
gnomAD v2: 19-2274843-C-T
gnomAD v3: 19-2274844-C-T
gnomAD v4: 19-2274844-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274844C>T , CM000681.2:g.2274844C>T GRCh38
NC_000019.9:g.2274843C>T , CM000681.1:g.2274843C>T GRCh37
NC_000019.8:g.2225843C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*836G>A MANE Select ENSP00000345102.3:n.*836G>A
ENST00000342063.4:c.*836G>A ENSP00000345102.3:n.*836G>A
ENST00000621615.1:c.146+5100C>T ENSP00000481965.1:n.146+5100C>T
NM_198532.2:c.*836G>A NP_940934.1:n.*836G>A
NM_198532.3:c.*836G>A MANE Select NP_940934.1:n.*836G>A