Canonical Allele Identifier: CA2433397

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52352060T>C , CM000665.2:g.52352060T>C	GRCh38
NC_000003.11:g.52386076T>C , CM000665.1:g.52386076T>C	GRCh37
NC_000003.10:g.52361116T>C	NCBI36
NG_052911.1:g.40742T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.2828T>C MANE Select	NP_056327.4:p.Ile943Thr
ENST00000420323.7:c.2828T>C MANE Select	ENSP00000401514.2:p.Ile943Thr
NM_015512.4:c.2828T>C	NP_056327.4:p.Ile943Thr
ENST00000420323.6:c.2828T>C	ENSP00000401514.2:p.Ile943Thr
ENST00000486752.5:n.3089T>C
ENST00000497875.1:n.2993T>C
XM_011533577.1:c.2828T>C	XP_011531879.1:p.Ile943Thr
XM_017006129.1:c.2828T>C	XP_016861618.1:p.Ile943Thr
XM_017006130.1:c.2828T>C	XP_016861619.1:p.Ile943Thr
XM_017006131.1:c.2828T>C	XP_016861620.1:p.Ile943Thr
XM_017006132.1:c.2828T>C	XP_016861621.1:p.Ile943Thr
XM_017006133.1:c.2828T>C	XP_016861622.1:p.Ile943Thr
XR_001740098.1:n.5977T>C
XR_001740099.1:n.5977T>C