Canonical Allele Identifier: CA359203307

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769601A>T , CM000667.2:g.13769601A>T	GRCh38
NC_000005.9:g.13769710A>T , CM000667.1:g.13769710A>T	GRCh37
NC_000005.8:g.13822710A>T	NCBI36
NG_013081.1:g.179880T>A
NG_013081.2:g.179880T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9620T>A MANE Select	NP_001360.1:p.Leu3207Ter
ENST00000265104.5:c.9620T>A MANE Select	ENSP00000265104.4:p.Leu3207Ter
NM_001369.2:c.9620T>A	NP_001360.1:p.Leu3207Ter
ENST00000265104.4:c.9620T>A	ENSP00000265104.4:p.Leu3207Ter
ENST00000504001.3:n.332T>A
ENST00000681290.1:c.9575T>A	ENSP00000505288.1:p.Leu3192Ter
XM_005248262.2:c.9575T>A	XP_005248319.1:p.Leu3192Ter
XM_005248262.3:c.9728T>A	XP_005248319.2:p.Leu3243Ter
XM_017009177.1:c.9728T>A	XP_016864666.1:p.Leu3243Ter
XM_017009178.1:c.8633T>A	XP_016864667.1:p.Leu2878Ter
XM_017009179.2:c.8633T>A	XP_016864668.1:p.Leu2878Ter
XM_017009180.1:c.9728T>A	XP_016864669.1:p.Leu3243Ter
XM_017009181.1:c.9728T>A	XP_016864670.1:p.Leu3243Ter
XM_017009182.1:c.9728T>A	XP_016864671.1:p.Leu3243Ter
XM_017009185.1:c.4817T>A	XP_016864674.1:p.Leu1606Ter
XM_017009186.1:c.4370T>A	XP_016864675.1:p.Leu1457Ter
XM_017009188.1:c.3707T>A	XP_016864677.1:p.Leu1236Ter
XM_024454388.1:c.8633T>A	XP_024310156.1:p.Leu2878Ter
XM_024454389.1:c.8222T>A	XP_024310157.1:p.Leu2741Ter