Canonical Allele Identifier: CA2749837939

Gene: STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755817C>T , CM000664.2:g.48755817C>T	GRCh38
NC_000002.11:g.48982956C>T , CM000664.1:g.48982956C>T	GRCh37
NC_000002.10:g.48836460C>T	NCBI36
NG_008193.1:g.4925G>A
NG_033050.1:g.230893C>T
NG_008193.2:g.4925G>A
NG_033050.2:g.230893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20463C>T	ENSP00000385701.1:n.3442-20463C>T
NM_001198593.1:c.3442-20463C>T	NP_001185522.1:n.3442-20463C>T
NM_001198593.2:c.3442-20463C>T	NP_001185522.1:n.3442-20463C>T