Canonical Allele Identifier: CA443248778

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692201C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692092C>T , CM000667.2:g.13692092C>T	GRCh38
NC_000005.9:g.13692201C>T , CM000667.1:g.13692201C>T	GRCh37
NC_000005.8:g.13745201C>T	NCBI36
NG_013081.1:g.257389G>A
NG_013081.2:g.257389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1100G>A
ENST00000265104.5:c.13767G>A MANE Select	ENSP00000265104.4:p.Lys4589=
ENST00000681290.1:c.13722G>A	ENSP00000505288.1:p.Lys4574=
ENST00000265104.4:c.13767G>A	ENSP00000265104.4:p.Lys4589=
NM_001369.2:c.13767G>A	NP_001360.1:p.Lys4589=
XM_005248262.2:c.13722G>A	XP_005248319.1:p.Lys4574=
XM_005248262.3:c.13875G>A	XP_005248319.2:p.Lys4625=
XM_017009177.1:c.13455G>A	XP_016864666.1:p.Lys4485=
XM_017009178.1:c.12780G>A	XP_016864667.1:p.Lys4260=
XM_017009179.2:c.12780G>A	XP_016864668.1:p.Lys4260=
XM_017009185.1:c.8964G>A	XP_016864674.1:p.Lys2988=
XM_017009186.1:c.8517G>A	XP_016864675.1:p.Lys2839=
XM_017009188.1:c.7854G>A	XP_016864677.1:p.Lys2618=
XM_024454388.1:c.12780G>A	XP_024310156.1:p.Lys4260=
XM_024454389.1:c.12369G>A	XP_024310157.1:p.Lys4123=
NM_001369.3:c.13767G>A MANE Select	NP_001360.1:p.Lys4589=