Canonical Allele Identifier: CA454138929
Gene: DNAH11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.21583073G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543455G>T , CM000669.2:g.21543455G>T GRCh38
NC_000007.13:g.21583073G>T , CM000669.1:g.21583073G>T GRCh37
NC_000007.12:g.21549598G>T NCBI36
NG_012886.2:g.5241G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.210G>T MANE Select ENSP00000475939.1:p.Leu70=
ENST00000328843.10:c.210G>T ENSP00000330671.7:p.Leu70=
ENST00000409508.7:c.210G>T ENSP00000475939.1:p.Leu70=
ENST00000607050.1:n.10G>T
ENST00000620169.4:c.210G>T ENSP00000481693.1:p.Leu70=
NM_001277115.1:c.210G>T NP_001264044.1:p.Leu70=
NM_001277115.2:c.210G>T MANE Select NP_001264044.1:p.Leu70=