Canonical Allele Identifier: CA304237066

Gene: PEAK3

Linked Data

• dbSNP Id: rs916476747
• gnomAD v2: 19-2274968-A-G
• gnomAD v3: 19-2274969-A-G
• gnomAD v4: 19-2274969-A-G
• MyVariant Identifiers: chr19:g.2274968A>G (hg19) ; chr19:g.2274969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274969A>G , CM000681.2:g.2274969A>G	GRCh38
NC_000019.9:g.2274968A>G , CM000681.1:g.2274968A>G	GRCh37
NC_000019.8:g.2225968A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*711T>C MANE Select	ENSP00000345102.3:n.*711T>C
ENST00000342063.4:c.*711T>C	ENSP00000345102.3:n.*711T>C
ENST00000621615.1:c.146+5225A>G	ENSP00000481965.1:n.146+5225A>G
NM_198532.2:c.*711T>C	NP_940934.1:n.*711T>C
NM_198532.3:c.*711T>C MANE Select	NP_940934.1:n.*711T>C