Canonical Allele Identifier: CA359191524

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13700761A>T , CM000667.2:g.13700761A>T	GRCh38
NC_000005.9:g.13700870A>T , CM000667.1:g.13700870A>T	GRCh37
NC_000005.8:g.13753870A>T	NCBI36
NG_013081.1:g.248720T>A
NG_013081.2:g.248720T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13602T>A MANE Select	NP_001360.1:p.Tyr4534Ter
ENST00000265104.5:c.13602T>A MANE Select	ENSP00000265104.4:p.Tyr4534Ter
NM_001369.2:c.13602T>A	NP_001360.1:p.Tyr4534Ter
ENST00000265104.4:c.13602T>A	ENSP00000265104.4:p.Tyr4534Ter
ENST00000681290.1:c.13557T>A	ENSP00000505288.1:p.Tyr4519Ter
ENST00000683611.1:n.935T>A
XM_005248262.2:c.13557T>A	XP_005248319.1:p.Tyr4519Ter
XM_005248262.3:c.13710T>A	XP_005248319.2:p.Tyr4570Ter
XM_017009177.1:c.13290T>A	XP_016864666.1:p.Tyr4430Ter
XM_017009178.1:c.12615T>A	XP_016864667.1:p.Tyr4205Ter
XM_017009179.2:c.12615T>A	XP_016864668.1:p.Tyr4205Ter
XM_017009185.1:c.8799T>A	XP_016864674.1:p.Tyr2933Ter
XM_017009186.1:c.8352T>A	XP_016864675.1:p.Tyr2784Ter
XM_017009188.1:c.7689T>A	XP_016864677.1:p.Tyr2563Ter
XM_024454388.1:c.12615T>A	XP_024310156.1:p.Tyr4205Ter
XM_024454389.1:c.12204T>A	XP_024310157.1:p.Tyr4068Ter