Canonical Allele Identifier: CA359192900

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701362C>T , CM000667.2:g.13701362C>T	GRCh38
NC_000005.9:g.13701471C>T , CM000667.1:g.13701471C>T	GRCh37
NC_000005.8:g.13754471C>T	NCBI36
NG_013081.1:g.248119G>A
NG_013081.2:g.248119G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13413G>A MANE Select	NP_001360.1:p.Trp4471Ter
ENST00000265104.5:c.13413G>A MANE Select	ENSP00000265104.4:p.Trp4471Ter
NM_001369.2:c.13413G>A	NP_001360.1:p.Trp4471Ter
ENST00000265104.4:c.13413G>A	ENSP00000265104.4:p.Trp4471Ter
ENST00000681290.1:c.13368G>A	ENSP00000505288.1:p.Trp4456Ter
ENST00000683611.1:n.746G>A
XM_005248262.2:c.13368G>A	XP_005248319.1:p.Trp4456Ter
XM_005248262.3:c.13521G>A	XP_005248319.2:p.Trp4507Ter
XM_017009177.1:c.13101G>A	XP_016864666.1:p.Trp4367Ter
XM_017009178.1:c.12426G>A	XP_016864667.1:p.Trp4142Ter
XM_017009179.2:c.12426G>A	XP_016864668.1:p.Trp4142Ter
XM_017009185.1:c.8610G>A	XP_016864674.1:p.Trp2870Ter
XM_017009186.1:c.8163G>A	XP_016864675.1:p.Trp2721Ter
XM_017009188.1:c.7500G>A	XP_016864677.1:p.Trp2500Ter
XM_024454388.1:c.12426G>A	XP_024310156.1:p.Trp4142Ter
XM_024454389.1:c.12015G>A	XP_024310157.1:p.Trp4005Ter