Canonical Allele Identifier: CA443253901

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769195A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769086A>G , CM000667.2:g.13769086A>G	GRCh38
NC_000005.9:g.13769195A>G , CM000667.1:g.13769195A>G	GRCh37
NC_000005.8:g.13822195A>G	NCBI36
NG_013081.1:g.180395T>C
NG_013081.2:g.180395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9771T>C MANE Select	ENSP00000265104.4:p.Ala3257=
ENST00000681290.1:c.9726T>C	ENSP00000505288.1:p.Ala3242=
ENST00000265104.4:c.9771T>C	ENSP00000265104.4:p.Ala3257=
ENST00000504001.3:n.483T>C
NM_001369.2:c.9771T>C	NP_001360.1:p.Ala3257=
XM_005248262.2:c.9726T>C	XP_005248319.1:p.Ala3242=
XM_005248262.3:c.9879T>C	XP_005248319.2:p.Ala3293=
XM_017009177.1:c.9879T>C	XP_016864666.1:p.Ala3293=
XM_017009178.1:c.8784T>C	XP_016864667.1:p.Ala2928=
XM_017009179.2:c.8784T>C	XP_016864668.1:p.Ala2928=
XM_017009180.1:c.9879T>C	XP_016864669.1:p.Ala3293=
XM_017009181.1:c.9879T>C	XP_016864670.1:p.Ala3293=
XM_017009182.1:c.9879T>C	XP_016864671.1:p.Ala3293=
XM_017009185.1:c.4968T>C	XP_016864674.1:p.Ala1656=
XM_017009186.1:c.4521T>C	XP_016864675.1:p.Ala1507=
XM_017009188.1:c.3858T>C	XP_016864677.1:p.Ala1286=
XM_024454388.1:c.8784T>C	XP_024310156.1:p.Ala2928=
XM_024454389.1:c.8373T>C	XP_024310157.1:p.Ala2791=
NM_001369.3:c.9771T>C MANE Select	NP_001360.1:p.Ala3257=