Canonical Allele Identifier: CA359204648

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716680C>T , CM000667.2:g.13716680C>T	GRCh38
NC_000005.9:g.13716789C>T , CM000667.1:g.13716789C>T	GRCh37
NC_000005.8:g.13769789C>T	NCBI36
NG_013081.1:g.232801G>A
NG_013081.2:g.232801G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12716G>A MANE Select	NP_001360.1:p.Trp4239Ter
ENST00000265104.5:c.12716G>A MANE Select	ENSP00000265104.4:p.Trp4239Ter
NM_001369.2:c.12716G>A	NP_001360.1:p.Trp4239Ter
ENST00000265104.4:c.12716G>A	ENSP00000265104.4:p.Trp4239Ter
ENST00000681290.1:c.12671G>A	ENSP00000505288.1:p.Trp4224Ter
XM_005248262.2:c.12671G>A	XP_005248319.1:p.Trp4224Ter
XM_005248262.3:c.12824G>A	XP_005248319.2:p.Trp4275Ter
XM_017009177.1:c.12813+635G>A	XP_016864666.1:n.12813+635G>A
XM_017009178.1:c.11729G>A	XP_016864667.1:p.Trp3910Ter
XM_017009179.2:c.11729G>A	XP_016864668.1:p.Trp3910Ter
XM_017009185.1:c.7913G>A	XP_016864674.1:p.Trp2638Ter
XM_017009186.1:c.7466G>A	XP_016864675.1:p.Trp2489Ter
XM_017009188.1:c.6803G>A	XP_016864677.1:p.Trp2268Ter
XM_024454388.1:c.11729G>A	XP_024310156.1:p.Trp3910Ter
XM_024454389.1:c.11318G>A	XP_024310157.1:p.Trp3773Ter