Canonical Allele Identifier: CA631095543
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1171264878
gnomAD v2: 19-2274837-G-A
gnomAD v3: 19-2274838-G-A
gnomAD v4: 19-2274838-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274838G>A , CM000681.2:g.2274838G>A GRCh38
NC_000019.9:g.2274837G>A , CM000681.1:g.2274837G>A GRCh37
NC_000019.8:g.2225837G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*842C>T MANE Select ENSP00000345102.3:n.*842C>T
ENST00000342063.4:c.*842C>T ENSP00000345102.3:n.*842C>T
ENST00000621615.1:c.146+5094G>A ENSP00000481965.1:n.146+5094G>A
NM_198532.2:c.*842C>T NP_940934.1:n.*842C>T
NM_198532.3:c.*842C>T MANE Select NP_940934.1:n.*842C>T