Canonical Allele Identifier: CA1248636902
Gene: STON1-GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755783G= , CM000664.2:g.48755783G= GRCh38
NC_000002.11:g.48982922G= , CM000664.1:g.48982922G= GRCh37
NC_000002.10:g.48836426G= NCBI36
NG_008193.1:g.4959C=
NG_033050.1:g.230859G=
NG_008193.2:g.4959C=
NG_033050.2:g.230859G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20497G= ENSP00000385701.1:n.3442-20497G=
NM_001198593.1:c.3442-20497G= NP_001185522.1:n.3442-20497G=
NM_001198593.2:c.3442-20497G= NP_001185522.1:n.3442-20497G=