Canonical Allele Identifier: CA1528399943

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701427T= , CM000667.2:g.13701427T=	GRCh38
NC_000005.9:g.13701536T= , CM000667.1:g.13701536T=	GRCh37
NC_000005.8:g.13754536T=	NCBI36
NG_013081.1:g.248054A=
NG_013081.2:g.248054A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13348A= MANE Select	NP_001360.1:p.Ile4450=
ENST00000265104.5:c.13348A= MANE Select	ENSP00000265104.4:p.Ile4450=
NM_001369.2:c.13348A=	NP_001360.1:p.Ile4450=
ENST00000265104.4:c.13348A=	ENSP00000265104.4:p.Ile4450=
ENST00000681290.1:c.13303A=	ENSP00000505288.1:p.Ile4435=
ENST00000683611.1:n.681A=
XM_005248262.2:c.13303A=	XP_005248319.1:p.Ile4435=
XM_005248262.3:c.13456A=	XP_005248319.2:p.Ile4486=
XM_017009177.1:c.13036A=	XP_016864666.1:p.Ile4346=
XM_017009178.1:c.12361A=	XP_016864667.1:p.Ile4121=
XM_017009179.2:c.12361A=	XP_016864668.1:p.Ile4121=
XM_017009185.1:c.8545A=	XP_016864674.1:p.Ile2849=
XM_017009186.1:c.8098A=	XP_016864675.1:p.Ile2700=
XM_017009188.1:c.7435A=	XP_016864677.1:p.Ile2479=
XM_024454388.1:c.12361A=	XP_024310156.1:p.Ile4121=
XM_024454389.1:c.11950A=	XP_024310157.1:p.Ile3984=