Canonical Allele Identifier: CA1528407036

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717417G= , CM000667.2:g.13717417G=	GRCh38
NC_000005.9:g.13717526G= , CM000667.1:g.13717526G=	GRCh37
NC_000005.8:g.13770526G=	NCBI36
NG_013081.1:g.232064C=
NG_013081.2:g.232064C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12603C= MANE Select	ENSP00000265104.4:p.Phe4201=
ENST00000681290.1:c.12558C=	ENSP00000505288.1:p.Phe4186=
ENST00000265104.4:c.12603C=	ENSP00000265104.4:p.Phe4201=
NM_001369.2:c.12603C=	NP_001360.1:p.Phe4201=
XM_005248262.2:c.12558C=	XP_005248319.1:p.Phe4186=
XM_005248262.3:c.12711C=	XP_005248319.2:p.Phe4237=
XM_017009177.1:c.12711C=	XP_016864666.1:p.Phe4237=
XM_017009178.1:c.11616C=	XP_016864667.1:p.Phe3872=
XM_017009179.2:c.11616C=	XP_016864668.1:p.Phe3872=
XM_017009180.1:c.12711C=	XP_016864669.1:p.Phe4237=
XM_017009185.1:c.7800C=	XP_016864674.1:p.Phe2600=
XM_017009186.1:c.7353C=	XP_016864675.1:p.Phe2451=
XM_017009188.1:c.6690C=	XP_016864677.1:p.Phe2230=
XM_024454388.1:c.11616C=	XP_024310156.1:p.Phe3872=
XM_024454389.1:c.11205C=	XP_024310157.1:p.Phe3735=
NM_001369.3:c.12603C= MANE Select	NP_001360.1:p.Phe4201=