Canonical Allele Identifier: CA880699491
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1255471327
gnomAD v3: 19-2274848-T-C
gnomAD v4: 19-2274848-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274848T>C , CM000681.2:g.2274848T>C GRCh38
NC_000019.9:g.2274847T>C , CM000681.1:g.2274847T>C GRCh37
NC_000019.8:g.2225847T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*832A>G MANE Select ENSP00000345102.3:n.*832A>G
ENST00000342063.4:c.*832A>G ENSP00000345102.3:n.*832A>G
ENST00000621615.1:c.146+5104T>C ENSP00000481965.1:n.146+5104T>C
NM_198532.2:c.*832A>G NP_940934.1:n.*832A>G
NM_198532.3:c.*832A>G MANE Select NP_940934.1:n.*832A>G