Canonical Allele Identifier: CA304236729
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs916280595
gnomAD v3: 19-2274730-T-C
gnomAD v4: 19-2274730-T-C
MyVariant Identifiers: chr19:g.2274729T>C (hg19) chr19:g.2274730T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274730T>C , CM000681.2:g.2274730T>C GRCh38
NC_000019.9:g.2274729T>C , CM000681.1:g.2274729T>C GRCh37
NC_000019.8:g.2225729T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*950A>G MANE Select ENSP00000345102.3:n.*950A>G
ENST00000342063.4:c.*950A>G ENSP00000345102.3:n.*950A>G
ENST00000621615.1:c.146+4986T>C ENSP00000481965.1:n.146+4986T>C
NM_198532.2:c.*950A>G NP_940934.1:n.*950A>G
NM_198532.3:c.*950A>G MANE Select NP_940934.1:n.*950A>G
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