Canonical Allele Identifier: CA2658995248
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755812-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755812G>T , CM000664.2:g.48755812G>T GRCh38
NC_000002.11:g.48982951G>T , CM000664.1:g.48982951G>T GRCh37
NC_000002.10:g.48836455G>T NCBI36
NG_008193.1:g.4930C>A
NG_033050.1:g.230888G>T
NG_008193.2:g.4930C>A
NG_033050.2:g.230888G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20468G>T ENSP00000385701.1:n.3442-20468G>T
NM_001198593.1:c.3442-20468G>T NP_001185522.1:n.3442-20468G>T
NM_001198593.2:c.3442-20468G>T NP_001185522.1:n.3442-20468G>T
Search 100 bp 5'
Search 100 bp 3'