Canonical Allele Identifier: CA359218109

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727571G>T , CM000667.2:g.13727571G>T	GRCh38
NC_000005.9:g.13727680G>T , CM000667.1:g.13727680G>T	GRCh37
NC_000005.8:g.13780680G>T	NCBI36
NG_013081.1:g.221910C>A
NG_013081.2:g.221910C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11969C>A MANE Select	NP_001360.1:p.Ser3990Tyr
ENST00000265104.5:c.11969C>A MANE Select	ENSP00000265104.4:p.Ser3990Tyr
NM_001369.2:c.11969C>A	NP_001360.1:p.Ser3990Tyr
ENST00000265104.4:c.11969C>A	ENSP00000265104.4:p.Ser3990Tyr
ENST00000681290.1:c.11924C>A	ENSP00000505288.1:p.Ser3975Tyr
XM_005248262.2:c.11924C>A	XP_005248319.1:p.Ser3975Tyr
XM_005248262.3:c.12077C>A	XP_005248319.2:p.Ser4026Tyr
XM_017009177.1:c.12077C>A	XP_016864666.1:p.Ser4026Tyr
XM_017009178.1:c.10982C>A	XP_016864667.1:p.Ser3661Tyr
XM_017009179.2:c.10982C>A	XP_016864668.1:p.Ser3661Tyr
XM_017009180.1:c.12077C>A	XP_016864669.1:p.Ser4026Tyr
XM_017009181.1:c.*72C>A	XP_016864670.1:n.*72C>A
XM_017009185.1:c.7166C>A	XP_016864674.1:p.Ser2389Tyr
XM_017009186.1:c.6719C>A	XP_016864675.1:p.Ser2240Tyr
XM_017009188.1:c.6056C>A	XP_016864677.1:p.Ser2019Tyr
XM_024454388.1:c.10982C>A	XP_024310156.1:p.Ser3661Tyr
XM_024454389.1:c.10571C>A	XP_024310157.1:p.Ser3524Tyr