Canonical Allele Identifier: CA880699434
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1295491868
gnomAD v3: 19-2274747-C-T
gnomAD v4: 19-2274747-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274747C>T , CM000681.2:g.2274747C>T GRCh38
NC_000019.9:g.2274746C>T , CM000681.1:g.2274746C>T GRCh37
NC_000019.8:g.2225746C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*933G>A MANE Select ENSP00000345102.3:n.*933G>A
ENST00000342063.4:c.*933G>A ENSP00000345102.3:n.*933G>A
ENST00000621615.1:c.146+5003C>T ENSP00000481965.1:n.146+5003C>T
NM_198532.2:c.*933G>A NP_940934.1:n.*933G>A
NM_198532.3:c.*933G>A MANE Select NP_940934.1:n.*933G>A