Canonical Allele Identifier: CA2597586190
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs2103769121
gnomAD v3: 2-48755852-C-A
gnomAD v4: 2-48755852-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755852C>A , CM000664.2:g.48755852C>A GRCh38
NC_000002.11:g.48982991C>A , CM000664.1:g.48982991C>A GRCh37
NC_000002.10:g.48836495C>A NCBI36
NG_008193.1:g.4890G>T
NG_033050.1:g.230928C>A
NG_008193.2:g.4890G>T
NG_033050.2:g.230928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20428C>A ENSP00000385701.1:n.3442-20428C>A
NM_001198593.1:c.3442-20428C>A NP_001185522.1:n.3442-20428C>A
NM_001198593.2:c.3442-20428C>A NP_001185522.1:n.3442-20428C>A
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