Canonical Allele Identifier: CA1248636899
Gene: STON1-GTF2A1L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755780C= , CM000664.2:g.48755780C= GRCh38
NC_000002.11:g.48982919C= , CM000664.1:g.48982919C= GRCh37
NC_000002.10:g.48836423C= NCBI36
NG_008193.1:g.4962G=
NG_033050.1:g.230856C=
NG_008193.2:g.4962G=
NG_033050.2:g.230856C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20500C= ENSP00000385701.1:n.3442-20500C=
NM_001198593.1:c.3442-20500C= NP_001185522.1:n.3442-20500C=
NM_001198593.2:c.3442-20500C= NP_001185522.1:n.3442-20500C=
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