Canonical Allele Identifier: CA2583859235
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275084-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275084G>T , CM000681.2:g.2275084G>T GRCh38
NC_000019.9:g.2275083G>T , CM000681.1:g.2275083G>T GRCh37
NC_000019.8:g.2226083G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*596C>A MANE Select ENSP00000345102.3:n.*596C>A
ENST00000342063.4:c.*596C>A ENSP00000345102.3:n.*596C>A
ENST00000621615.1:c.146+5340G>T ENSP00000481965.1:n.146+5340G>T
NM_198532.2:c.*596C>A NP_940934.1:n.*596C>A
NM_198532.3:c.*596C>A MANE Select NP_940934.1:n.*596C>A
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