Canonical Allele Identifier: CA771704

Gene: DNALI1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37562097C>T , CM000663.2:g.37562097C>T	GRCh38
NC_000001.10:g.38027698C>T , CM000663.1:g.38027698C>T	GRCh37
NC_000001.9:g.37800285C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003462.5:c.593C>T MANE Select	NP_003453.3:p.Thr198Met
ENST00000652629.1:c.593C>T MANE Select	ENSP00000498620.1:p.Thr198Met
NM_003462.3:c.659C>T	NP_003453.2:p.Thr220Met
NM_003462.4:c.593C>T	NP_003453.3:p.Thr198Met
ENST00000296218.7:c.659C>T	ENSP00000296218.7:p.Thr220Met
ENST00000296218.8:c.659C>T	ENSP00000296218.7:p.Thr220Met
ENST00000466723.1:n.420C>T
ENST00000467277.1:n.352C>T
ENST00000497858.1:n.1560C>T
XM_005271172.1:c.215C>T	XP_005271229.1:p.Thr72Met
XM_005271172.3:c.215C>T	XP_005271229.1:p.Thr72Met