Canonical Allele Identifier: CA4181182

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21725836G>T , CM000669.2:g.21725836G>T	GRCh38
NC_000007.13:g.21765454G>T , CM000669.1:g.21765454G>T	GRCh37
NC_000007.12:g.21731979G>T	NCBI36
NG_012886.2:g.187622G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001277115.2:c.7292G>T MANE Select	NP_001264044.1:p.Ser2431Ile
ENST00000409508.8:c.7292G>T MANE Select	ENSP00000475939.1:p.Ser2431Ile
NM_001277115.1:c.7292G>T	NP_001264044.1:p.Ser2431Ile
ENST00000328843.10:c.7313G>T	ENSP00000330671.7:p.Ser2438Ile
ENST00000409508.7:c.7292G>T	ENSP00000475939.1:p.Ser2431Ile
ENST00000620169.4:c.7313G>T	ENSP00000481693.1:p.Ser2438Ile