Canonical Allele Identifier: CA2583859253
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275093-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275093G>A , CM000681.2:g.2275093G>A GRCh38
NC_000019.9:g.2275092G>A , CM000681.1:g.2275092G>A GRCh37
NC_000019.8:g.2226092G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000342063.5:c.*587C>T MANE Select ENSP00000345102.3:n.*587C>T
ENST00000342063.4:c.*587C>T ENSP00000345102.3:n.*587C>T
ENST00000621615.1:c.146+5349G>A ENSP00000481965.1:n.146+5349G>A
NM_198532.2:c.*587C>T NP_940934.1:n.*587C>T
NM_198532.3:c.*587C>T MANE Select NP_940934.1:n.*587C>T