Canonical Allele Identifier: CA2813288729
Gene: PEAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274962A>C , CM000681.2:g.2274962A>C GRCh38
NC_000019.9:g.2274961A>C , CM000681.1:g.2274961A>C GRCh37
NC_000019.8:g.2225961A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*718T>G MANE Select ENSP00000345102.3:n.*718T>G
ENST00000342063.4:c.*718T>G ENSP00000345102.3:n.*718T>G
ENST00000621615.1:c.146+5218A>C ENSP00000481965.1:n.146+5218A>C
NM_198532.2:c.*718T>G NP_940934.1:n.*718T>G
NM_198532.3:c.*718T>G MANE Select NP_940934.1:n.*718T>G
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