Canonical Allele Identifier: CA359217887

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727542T>A , CM000667.2:g.13727542T>A	GRCh38
NC_000005.9:g.13727651T>A , CM000667.1:g.13727651T>A	GRCh37
NC_000005.8:g.13780651T>A	NCBI36
NG_013081.1:g.221939A>T
NG_013081.2:g.221939A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11998A>T MANE Select	NP_001360.1:p.Ile4000Phe
ENST00000265104.5:c.11998A>T MANE Select	ENSP00000265104.4:p.Ile4000Phe
NM_001369.2:c.11998A>T	NP_001360.1:p.Ile4000Phe
ENST00000265104.4:c.11998A>T	ENSP00000265104.4:p.Ile4000Phe
ENST00000681290.1:c.11953A>T	ENSP00000505288.1:p.Ile3985Phe
XM_005248262.2:c.11953A>T	XP_005248319.1:p.Ile3985Phe
XM_005248262.3:c.12106A>T	XP_005248319.2:p.Ile4036Phe
XM_017009177.1:c.12106A>T	XP_016864666.1:p.Ile4036Phe
XM_017009178.1:c.11011A>T	XP_016864667.1:p.Ile3671Phe
XM_017009179.2:c.11011A>T	XP_016864668.1:p.Ile3671Phe
XM_017009180.1:c.12106A>T	XP_016864669.1:p.Ile4036Phe
XM_017009185.1:c.7195A>T	XP_016864674.1:p.Ile2399Phe
XM_017009186.1:c.6748A>T	XP_016864675.1:p.Ile2250Phe
XM_017009188.1:c.6085A>T	XP_016864677.1:p.Ile2029Phe
XM_024454388.1:c.11011A>T	XP_024310156.1:p.Ile3671Phe
XM_024454389.1:c.10600A>T	XP_024310157.1:p.Ile3534Phe