Canonical Allele Identifier: CA2583859249
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275091-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275091C>G , CM000681.2:g.2275091C>G GRCh38
NC_000019.9:g.2275090C>G , CM000681.1:g.2275090C>G GRCh37
NC_000019.8:g.2226090C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000342063.5:c.*589G>C MANE Select ENSP00000345102.3:n.*589G>C
ENST00000342063.4:c.*589G>C ENSP00000345102.3:n.*589G>C
ENST00000621615.1:c.146+5347C>G ENSP00000481965.1:n.146+5347C>G
NM_198532.2:c.*589G>C NP_940934.1:n.*589G>C
NM_198532.3:c.*589G>C MANE Select NP_940934.1:n.*589G>C
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