Canonical Allele Identifier: CA2813288707
Gene: PEAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274733G>T , CM000681.2:g.2274733G>T GRCh38
NC_000019.9:g.2274732G>T , CM000681.1:g.2274732G>T GRCh37
NC_000019.8:g.2225732G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*947C>A MANE Select ENSP00000345102.3:n.*947C>A
ENST00000342063.4:c.*947C>A ENSP00000345102.3:n.*947C>A
ENST00000621615.1:c.146+4989G>T ENSP00000481965.1:n.146+4989G>T
NM_198532.2:c.*947C>A NP_940934.1:n.*947C>A
NM_198532.3:c.*947C>A MANE Select NP_940934.1:n.*947C>A
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