Canonical Allele Identifier: CA2583859027
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2274731-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274731G>T , CM000681.2:g.2274731G>T GRCh38
NC_000019.9:g.2274730G>T , CM000681.1:g.2274730G>T GRCh37
NC_000019.8:g.2225730G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*949C>A MANE Select ENSP00000345102.3:n.*949C>A
ENST00000342063.4:c.*949C>A ENSP00000345102.3:n.*949C>A
ENST00000621615.1:c.146+4987G>T ENSP00000481965.1:n.146+4987G>T
NM_198532.2:c.*949C>A NP_940934.1:n.*949C>A
NM_198532.3:c.*949C>A MANE Select NP_940934.1:n.*949C>A