Canonical Allele Identifier: CA1528395885

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692111G= , CM000667.2:g.13692111G=	GRCh38
NC_000005.9:g.13692220G= , CM000667.1:g.13692220G=	GRCh37
NC_000005.8:g.13745220G=	NCBI36
NG_013081.1:g.257370C=
NG_013081.2:g.257370C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1081C=
ENST00000265104.5:c.13748C= MANE Select	ENSP00000265104.4:p.Ser4583=
ENST00000681290.1:c.13703C=	ENSP00000505288.1:p.Ser4568=
ENST00000265104.4:c.13748C=	ENSP00000265104.4:p.Ser4583=
NM_001369.2:c.13748C=	NP_001360.1:p.Ser4583=
XM_005248262.2:c.13703C=	XP_005248319.1:p.Ser4568=
XM_005248262.3:c.13856C=	XP_005248319.2:p.Ser4619=
XM_017009177.1:c.13436C=	XP_016864666.1:p.Ser4479=
XM_017009178.1:c.12761C=	XP_016864667.1:p.Ser4254=
XM_017009179.2:c.12761C=	XP_016864668.1:p.Ser4254=
XM_017009185.1:c.8945C=	XP_016864674.1:p.Ser2982=
XM_017009186.1:c.8498C=	XP_016864675.1:p.Ser2833=
XM_017009188.1:c.7835C=	XP_016864677.1:p.Ser2612=
XM_024454388.1:c.12761C=	XP_024310156.1:p.Ser4254=
XM_024454389.1:c.12350C=	XP_024310157.1:p.Ser4117=
NM_001369.3:c.13748C= MANE Select	NP_001360.1:p.Ser4583=