Canonical Allele Identifier: CA2583859248
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275091-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275091C>A , CM000681.2:g.2275091C>A GRCh38
NC_000019.9:g.2275090C>A , CM000681.1:g.2275090C>A GRCh37
NC_000019.8:g.2226090C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*589G>T MANE Select ENSP00000345102.3:n.*589G>T
ENST00000342063.4:c.*589G>T ENSP00000345102.3:n.*589G>T
ENST00000621615.1:c.146+5347C>A ENSP00000481965.1:n.146+5347C>A
NM_198532.2:c.*589G>T NP_940934.1:n.*589G>T
NM_198532.3:c.*589G>T MANE Select NP_940934.1:n.*589G>T