Canonical Allele Identifier: CA304236672
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs548933161
gnomAD v3: 19-2274673-T-C
gnomAD v4: 19-2274673-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274673T>C , CM000681.2:g.2274673T>C GRCh38
NC_000019.9:g.2274672T>C , CM000681.1:g.2274672T>C GRCh37
NC_000019.8:g.2225672T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*1007A>G MANE Select ENSP00000345102.3:n.*1007A>G
ENST00000342063.4:c.*1007A>G ENSP00000345102.3:n.*1007A>G
ENST00000621615.1:c.146+4929T>C ENSP00000481965.1:n.146+4929T>C
NM_198532.2:c.*1007A>G NP_940934.1:n.*1007A>G
NM_198532.3:c.*1007A>G MANE Select NP_940934.1:n.*1007A>G