Canonical Allele Identifier: CA1528403767

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708221G= , CM000667.2:g.13708221G=	GRCh38
NC_000005.9:g.13708330G= , CM000667.1:g.13708330G=	GRCh37
NC_000005.8:g.13761330G=	NCBI36
NG_013081.1:g.241260C=
NG_013081.2:g.241260C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.573C=
ENST00000265104.5:c.13240C= MANE Select	ENSP00000265104.4:p.Leu4414=
ENST00000681290.1:c.13195C=	ENSP00000505288.1:p.Leu4399=
ENST00000265104.4:c.13240C=	ENSP00000265104.4:p.Leu4414=
NM_001369.2:c.13240C=	NP_001360.1:p.Leu4414=
XM_005248262.2:c.13195C=	XP_005248319.1:p.Leu4399=
XM_005248262.3:c.13348C=	XP_005248319.2:p.Leu4450=
XM_017009177.1:c.12928C=	XP_016864666.1:p.Leu4310=
XM_017009178.1:c.12253C=	XP_016864667.1:p.Leu4085=
XM_017009179.2:c.12253C=	XP_016864668.1:p.Leu4085=
XM_017009185.1:c.8437C=	XP_016864674.1:p.Leu2813=
XM_017009186.1:c.7990C=	XP_016864675.1:p.Leu2664=
XM_017009188.1:c.7327C=	XP_016864677.1:p.Leu2443=
XM_024454388.1:c.12253C=	XP_024310156.1:p.Leu4085=
XM_024454389.1:c.11842C=	XP_024310157.1:p.Leu3948=
NM_001369.3:c.13240C= MANE Select	NP_001360.1:p.Leu4414=