Canonical Allele Identifier: CA304237057

Gene: PEAK3

Linked Data

• dbSNP Id: rs201476612
• gnomAD v2: 19-2274953-G-A
• gnomAD v3: 19-2274954-G-A
• gnomAD v4: 19-2274954-G-A
• MyVariant Identifiers: chr19:g.2274953G>A (hg19) ; chr19:g.2274953_2274957delinsAAAAA (hg19) ; chr19:g.2274954G>A (hg38) ; chr19:g.2274954_2274958delinsAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274954G>A , CM000681.2:g.2274954G>A	GRCh38
NC_000019.9:g.2274953G>A , CM000681.1:g.2274953G>A	GRCh37
NC_000019.8:g.2225953G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*726C>T MANE Select	ENSP00000345102.3:n.*726C>T
ENST00000342063.4:c.*726C>T	ENSP00000345102.3:n.*726C>T
ENST00000621615.1:c.146+5210G>A	ENSP00000481965.1:n.146+5210G>A
NM_198532.2:c.*726C>T	NP_940934.1:n.*726C>T
NM_198532.3:c.*726C>T MANE Select	NP_940934.1:n.*726C>T