Canonical Allele Identifier: CA13630287
Gene: ASCL1 HGNC NCBI
gnomAD v2:
12:103353538 A / G
gnomAD v3:
12:102959760 A / G
gnomAD v4:
chr12-102959760-A-G
Joint Max Group AF 0.85883173 (AMR)
Genomes Max Group AF 0.85883173 (AMR)
Exomes Max Group AF 0.57940364 (NFE)
dbSNP:
2291854
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102959760A>G , CM000674.2:g.102959760A>G GRCh38
NC_000012.11:g.103353538A>G , CM000674.1:g.103353538A>G GRCh37
NC_000012.10:g.101877668A>G NCBI36
NG_008950.1:g.7087A>G
NG_008690.2:g.3651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266744.4:c.*446A>G MANE Select ENSP00000266744.3:n.*446A>G
ENST00000266744.3:c.*446A>G ENSP00000266744.3:n.*446A>G
NM_004316.3:c.*446A>G NP_004307.2:n.*446A>G
NM_004316.4:c.*446A>G MANE Select NP_004307.2:n.*446A>G
Search 100 bp 5'
Search 100 bp 3'