Canonical Allele Identifier: CA992609012
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1386078527
gnomAD v3: 19-2274885-T-G
gnomAD v4: 19-2274885-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274885T>G , CM000681.2:g.2274885T>G GRCh38
NC_000019.9:g.2274884T>G , CM000681.1:g.2274884T>G GRCh37
NC_000019.8:g.2225884T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*795A>C MANE Select ENSP00000345102.3:n.*795A>C
ENST00000342063.4:c.*795A>C ENSP00000345102.3:n.*795A>C
ENST00000621615.1:c.146+5141T>G ENSP00000481965.1:n.146+5141T>G
NM_198532.2:c.*795A>C NP_940934.1:n.*795A>C
NM_198532.3:c.*795A>C MANE Select NP_940934.1:n.*795A>C
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