Canonical Allele Identifier: CA2582016613
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2145066221
gnomAD v3: 19-2274693-C-G
gnomAD v4: 19-2274693-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274693C>G , CM000681.2:g.2274693C>G GRCh38
NC_000019.9:g.2274692C>G , CM000681.1:g.2274692C>G GRCh37
NC_000019.8:g.2225692C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*987G>C MANE Select ENSP00000345102.3:n.*987G>C
ENST00000342063.4:c.*987G>C ENSP00000345102.3:n.*987G>C
ENST00000621615.1:c.146+4949C>G ENSP00000481965.1:n.146+4949C>G
NM_198532.2:c.*987G>C NP_940934.1:n.*987G>C
NM_198532.3:c.*987G>C MANE Select NP_940934.1:n.*987G>C
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