Canonical Allele Identifier: CA992609075
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2145066914
gnomAD v3: 19-2274971-T-G
gnomAD v4: 19-2274971-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274971T>G , CM000681.2:g.2274971T>G GRCh38
NC_000019.9:g.2274970T>G , CM000681.1:g.2274970T>G GRCh37
NC_000019.8:g.2225970T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*709A>C MANE Select ENSP00000345102.3:n.*709A>C
ENST00000342063.4:c.*709A>C ENSP00000345102.3:n.*709A>C
ENST00000621615.1:c.146+5227T>G ENSP00000481965.1:n.146+5227T>G
NM_198532.2:c.*709A>C NP_940934.1:n.*709A>C
NM_198532.3:c.*709A>C MANE Select NP_940934.1:n.*709A>C
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