Canonical Allele Identifier: CA304236707
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1040914575
gnomAD v2: 19-2274688-G-T
gnomAD v3: 19-2274689-G-T
gnomAD v4: 19-2274689-G-T
MyVariant Identifiers: chr19:g.2274688G>T (hg19) chr19:g.2274689G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274689G>T , CM000681.2:g.2274689G>T GRCh38
NC_000019.9:g.2274688G>T , CM000681.1:g.2274688G>T GRCh37
NC_000019.8:g.2225688G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*991C>A MANE Select ENSP00000345102.3:n.*991C>A
ENST00000342063.4:c.*991C>A ENSP00000345102.3:n.*991C>A
ENST00000621615.1:c.146+4945G>T ENSP00000481965.1:n.146+4945G>T
NM_198532.2:c.*991C>A NP_940934.1:n.*991C>A
NM_198532.3:c.*991C>A MANE Select NP_940934.1:n.*991C>A
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