Canonical Allele Identifier: CA1528399885

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701292T= , CM000667.2:g.13701292T=	GRCh38
NC_000005.9:g.13701401T= , CM000667.1:g.13701401T=	GRCh37
NC_000005.8:g.13754401T=	NCBI36
NG_013081.1:g.248189A=
NG_013081.2:g.248189A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.816A=
ENST00000265104.5:c.13483A= MANE Select	ENSP00000265104.4:p.Met4495=
ENST00000681290.1:c.13438A=	ENSP00000505288.1:p.Met4480=
ENST00000265104.4:c.13483A=	ENSP00000265104.4:p.Met4495=
NM_001369.2:c.13483A=	NP_001360.1:p.Met4495=
XM_005248262.2:c.13438A=	XP_005248319.1:p.Met4480=
XM_005248262.3:c.13591A=	XP_005248319.2:p.Met4531=
XM_017009177.1:c.13171A=	XP_016864666.1:p.Met4391=
XM_017009178.1:c.12496A=	XP_016864667.1:p.Met4166=
XM_017009179.2:c.12496A=	XP_016864668.1:p.Met4166=
XM_017009185.1:c.8680A=	XP_016864674.1:p.Met2894=
XM_017009186.1:c.8233A=	XP_016864675.1:p.Met2745=
XM_017009188.1:c.7570A=	XP_016864677.1:p.Met2524=
XM_024454388.1:c.12496A=	XP_024310156.1:p.Met4166=
XM_024454389.1:c.12085A=	XP_024310157.1:p.Met4029=
NM_001369.3:c.13483A= MANE Select	NP_001360.1:p.Met4495=