Canonical Allele Identifier: CA304236722
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs552928289
gnomAD v2: 19-2274707-C-T
gnomAD v3: 19-2274708-C-T
gnomAD v4: 19-2274708-C-T
MyVariant Identifiers: chr19:g.2274707C>T (hg19) chr19:g.2274708C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274708C>T , CM000681.2:g.2274708C>T GRCh38
NC_000019.9:g.2274707C>T , CM000681.1:g.2274707C>T GRCh37
NC_000019.8:g.2225707C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*972G>A MANE Select ENSP00000345102.3:n.*972G>A
ENST00000342063.4:c.*972G>A ENSP00000345102.3:n.*972G>A
ENST00000621615.1:c.146+4964C>T ENSP00000481965.1:n.146+4964C>T
NM_198532.2:c.*972G>A NP_940934.1:n.*972G>A
NM_198532.3:c.*972G>A MANE Select NP_940934.1:n.*972G>A
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