Canonical Allele Identifier: CA1528407034

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717412G= , CM000667.2:g.13717412G=	GRCh38
NC_000005.9:g.13717521G= , CM000667.1:g.13717521G=	GRCh37
NC_000005.8:g.13770521G=	NCBI36
NG_013081.1:g.232069C=
NG_013081.2:g.232069C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12608C= MANE Select	ENSP00000265104.4:p.Ala4203=
ENST00000681290.1:c.12563C=	ENSP00000505288.1:p.Ala4188=
ENST00000265104.4:c.12608C=	ENSP00000265104.4:p.Ala4203=
NM_001369.2:c.12608C=	NP_001360.1:p.Ala4203=
XM_005248262.2:c.12563C=	XP_005248319.1:p.Ala4188=
XM_005248262.3:c.12716C=	XP_005248319.2:p.Ala4239=
XM_017009177.1:c.12716C=	XP_016864666.1:p.Ala4239=
XM_017009178.1:c.11621C=	XP_016864667.1:p.Ala3874=
XM_017009179.2:c.11621C=	XP_016864668.1:p.Ala3874=
XM_017009180.1:c.12716C=	XP_016864669.1:p.Ala4239=
XM_017009185.1:c.7805C=	XP_016864674.1:p.Ala2602=
XM_017009186.1:c.7358C=	XP_016864675.1:p.Ala2453=
XM_017009188.1:c.6695C=	XP_016864677.1:p.Ala2232=
XM_024454388.1:c.11621C=	XP_024310156.1:p.Ala3874=
XM_024454389.1:c.11210C=	XP_024310157.1:p.Ala3737=
NM_001369.3:c.12608C= MANE Select	NP_001360.1:p.Ala4203=