Canonical Allele Identifier: CA359214768

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721207A>T , CM000667.2:g.13721207A>T	GRCh38
NC_000005.9:g.13721316A>T , CM000667.1:g.13721316A>T	GRCh37
NC_000005.8:g.13774316A>T	NCBI36
NG_013081.1:g.228274T>A
NG_013081.2:g.228274T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12072T>A MANE Select	NP_001360.1:p.Tyr4024Ter
ENST00000265104.5:c.12072T>A MANE Select	ENSP00000265104.4:p.Tyr4024Ter
NM_001369.2:c.12072T>A	NP_001360.1:p.Tyr4024Ter
ENST00000265104.4:c.12072T>A	ENSP00000265104.4:p.Tyr4024Ter
ENST00000681290.1:c.12027T>A	ENSP00000505288.1:p.Tyr4009Ter
XM_005248262.2:c.12027T>A	XP_005248319.1:p.Tyr4009Ter
XM_005248262.3:c.12180T>A	XP_005248319.2:p.Tyr4060Ter
XM_017009177.1:c.12180T>A	XP_016864666.1:p.Tyr4060Ter
XM_017009178.1:c.11085T>A	XP_016864667.1:p.Tyr3695Ter
XM_017009179.2:c.11085T>A	XP_016864668.1:p.Tyr3695Ter
XM_017009180.1:c.12180T>A	XP_016864669.1:p.Tyr4060Ter
XM_017009185.1:c.7269T>A	XP_016864674.1:p.Tyr2423Ter
XM_017009186.1:c.6822T>A	XP_016864675.1:p.Tyr2274Ter
XM_017009188.1:c.6159T>A	XP_016864677.1:p.Tyr2053Ter
XM_024454388.1:c.11085T>A	XP_024310156.1:p.Tyr3695Ter
XM_024454389.1:c.10674T>A	XP_024310157.1:p.Tyr3558Ter