Canonical Allele Identifier: CA304236783
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs12459932
gnomAD v2: 19-2274767-G-C
gnomAD v3: 19-2274768-G-C
gnomAD v4: 19-2274768-G-C
MyVariant Identifiers: chr19:g.2274767G>C (hg19) chr19:g.2274768G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274768G>C , CM000681.2:g.2274768G>C GRCh38
NC_000019.9:g.2274767G>C , CM000681.1:g.2274767G>C GRCh37
NC_000019.8:g.2225767G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*912C>G MANE Select ENSP00000345102.3:n.*912C>G
ENST00000342063.4:c.*912C>G ENSP00000345102.3:n.*912C>G
ENST00000621615.1:c.146+5024G>C ENSP00000481965.1:n.146+5024G>C
NM_198532.2:c.*912C>G NP_940934.1:n.*912C>G
NM_198532.3:c.*912C>G MANE Select NP_940934.1:n.*912C>G
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