Canonical Allele Identifier: CA992609005
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2025367736
gnomAD v3: 19-2274859-C-G
gnomAD v4: 19-2274859-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274859C>G , CM000681.2:g.2274859C>G GRCh38
NC_000019.9:g.2274858C>G , CM000681.1:g.2274858C>G GRCh37
NC_000019.8:g.2225858C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*821G>C MANE Select ENSP00000345102.3:n.*821G>C
ENST00000342063.4:c.*821G>C ENSP00000345102.3:n.*821G>C
ENST00000621615.1:c.146+5115C>G ENSP00000481965.1:n.146+5115C>G
NM_198532.2:c.*821G>C NP_940934.1:n.*821G>C
NM_198532.3:c.*821G>C MANE Select NP_940934.1:n.*821G>C
Search 100 bp 5'
Search 100 bp 3'