Canonical Allele Identifier: CA1248636897
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1670186142
gnomAD v4: 2-48755772-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755772C>T , CM000664.2:g.48755772C>T GRCh38
NC_000002.11:g.48982911C>T , CM000664.1:g.48982911C>T GRCh37
NC_000002.10:g.48836415C>T NCBI36
NG_008193.1:g.4970G>A
NG_033050.1:g.230848C>T
NG_008193.2:g.4970G>A
NG_033050.2:g.230848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20508C>T ENSP00000385701.1:n.3442-20508C>T
NM_001198593.1:c.3442-20508C>T NP_001185522.1:n.3442-20508C>T
NM_001198593.2:c.3442-20508C>T NP_001185522.1:n.3442-20508C>T
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