Canonical Allele Identifier: CA443254689

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717532G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717423G>A , CM000667.2:g.13717423G>A	GRCh38
NC_000005.9:g.13717532G>A , CM000667.1:g.13717532G>A	GRCh37
NC_000005.8:g.13770532G>A	NCBI36
NG_013081.1:g.232058C>T
NG_013081.2:g.232058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12597C>T MANE Select	ENSP00000265104.4:p.Arg4199=
ENST00000681290.1:c.12552C>T	ENSP00000505288.1:p.Arg4184=
ENST00000265104.4:c.12597C>T	ENSP00000265104.4:p.Arg4199=
NM_001369.2:c.12597C>T	NP_001360.1:p.Arg4199=
XM_005248262.2:c.12552C>T	XP_005248319.1:p.Arg4184=
XM_005248262.3:c.12705C>T	XP_005248319.2:p.Arg4235=
XM_017009177.1:c.12705C>T	XP_016864666.1:p.Arg4235=
XM_017009178.1:c.11610C>T	XP_016864667.1:p.Arg3870=
XM_017009179.2:c.11610C>T	XP_016864668.1:p.Arg3870=
XM_017009180.1:c.12705C>T	XP_016864669.1:p.Arg4235=
XM_017009185.1:c.7794C>T	XP_016864674.1:p.Arg2598=
XM_017009186.1:c.7347C>T	XP_016864675.1:p.Arg2449=
XM_017009188.1:c.6684C>T	XP_016864677.1:p.Arg2228=
XM_024454388.1:c.11610C>T	XP_024310156.1:p.Arg3870=
XM_024454389.1:c.11199C>T	XP_024310157.1:p.Arg3733=
NM_001369.3:c.12597C>T MANE Select	NP_001360.1:p.Arg4199=