Canonical Allele Identifier: CA2318218556
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2025371554
gnomAD v4: 19-2275090-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275090G>A , CM000681.2:g.2275090G>A GRCh38
NC_000019.9:g.2275089G>A , CM000681.1:g.2275089G>A GRCh37
NC_000019.8:g.2226089G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*590C>T MANE Select ENSP00000345102.3:n.*590C>T
ENST00000342063.4:c.*590C>T ENSP00000345102.3:n.*590C>T
ENST00000621615.1:c.146+5346G>A ENSP00000481965.1:n.146+5346G>A
NM_198532.2:c.*590C>T NP_940934.1:n.*590C>T
NM_198532.3:c.*590C>T MANE Select NP_940934.1:n.*590C>T
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