Canonical Allele Identifier: CA2658995304
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755850-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755850T>G , CM000664.2:g.48755850T>G GRCh38
NC_000002.11:g.48982989T>G , CM000664.1:g.48982989T>G GRCh37
NC_000002.10:g.48836493T>G NCBI36
NG_008193.1:g.4892A>C
NG_033050.1:g.230926T>G
NG_008193.2:g.4892A>C
NG_033050.2:g.230926T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20430T>G ENSP00000385701.1:n.3442-20430T>G
NM_001198593.1:c.3442-20430T>G NP_001185522.1:n.3442-20430T>G
NM_001198593.2:c.3442-20430T>G NP_001185522.1:n.3442-20430T>G
Search 100 bp 5'
Search 100 bp 3'