Canonical Allele Identifier: CA353179126

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52380086C>G , CM000665.2:g.52380086C>G	GRCh38
NC_000003.11:g.52414102C>G , CM000665.1:g.52414102C>G	GRCh37
NC_000003.10:g.52389142C>G	NCBI36
NG_052911.1:g.68768C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.7559C>G MANE Select	NP_056327.4:p.Ser2520Ter
ENST00000420323.7:c.7559C>G MANE Select	ENSP00000401514.2:p.Ser2520Ter
NM_015512.4:c.7559C>G	NP_056327.4:p.Ser2520Ter
ENST00000420323.6:c.7559C>G	ENSP00000401514.2:p.Ser2520Ter
ENST00000486752.5:n.7820C>G
XM_011533577.1:c.7628C>G	XP_011531879.1:p.Ser2543Ter
XM_017006129.1:c.7628C>G	XP_016861618.1:p.Ser2543Ter
XM_017006130.1:c.7559C>G	XP_016861619.1:p.Ser2520Ter
XM_017006131.1:c.7628C>G	XP_016861620.1:p.Ser2543Ter
XM_017006132.1:c.7628C>G	XP_016861621.1:p.Ser2543Ter
XM_017006133.1:c.7628C>G	XP_016861622.1:p.Ser2543Ter
XR_001740098.1:n.10777C>G
XR_001740099.1:n.10777C>G