Canonical Allele Identifier: CA4180315

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658841C>T , CM000669.2:g.21658841C>T	GRCh38
NC_000007.13:g.21698459C>T , CM000669.1:g.21698459C>T	GRCh37
NC_000007.12:g.21664984C>T	NCBI36
NG_012886.2:g.120627C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001277115.2:c.5138C>T MANE Select	NP_001264044.1:p.Thr1713Met
ENST00000409508.8:c.5138C>T MANE Select	ENSP00000475939.1:p.Thr1713Met
NM_001277115.1:c.5138C>T	NP_001264044.1:p.Thr1713Met
ENST00000328843.10:c.5153C>T	ENSP00000330671.7:p.Thr1718Met
ENST00000409508.7:c.5138C>T	ENSP00000475939.1:p.Thr1713Met
ENST00000620169.4:c.5153C>T	ENSP00000481693.1:p.Thr1718Met