Canonical Allele Identifier: CA304236724
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs577169376
gnomAD v2: 19-2274716-A-G
gnomAD v3: 19-2274717-A-G
gnomAD v4: 19-2274717-A-G
MyVariant Identifiers: chr19:g.2274716A>G (hg19) chr19:g.2274717A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274717A>G , CM000681.2:g.2274717A>G GRCh38
NC_000019.9:g.2274716A>G , CM000681.1:g.2274716A>G GRCh37
NC_000019.8:g.2225716A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*963T>C MANE Select ENSP00000345102.3:n.*963T>C
ENST00000342063.4:c.*963T>C ENSP00000345102.3:n.*963T>C
ENST00000621615.1:c.146+4973A>G ENSP00000481965.1:n.146+4973A>G
NM_198532.2:c.*963T>C NP_940934.1:n.*963T>C
NM_198532.3:c.*963T>C MANE Select NP_940934.1:n.*963T>C
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