Canonical Allele Identifier: CA443260378

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13736037A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735928A>G , CM000667.2:g.13735928A>G	GRCh38
NC_000005.9:g.13736037A>G , CM000667.1:g.13736037A>G	GRCh37
NC_000005.8:g.13789037A>G	NCBI36
NG_013081.1:g.213553T>C
NG_013081.2:g.213553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11460T>C MANE Select	ENSP00000265104.4:p.Ala3820=
ENST00000681290.1:c.11415T>C	ENSP00000505288.1:p.Ala3805=
ENST00000265104.4:c.11460T>C	ENSP00000265104.4:p.Ala3820=
NM_001369.2:c.11460T>C	NP_001360.1:p.Ala3820=
XM_005248262.2:c.11415T>C	XP_005248319.1:p.Ala3805=
XM_005248262.3:c.11568T>C	XP_005248319.2:p.Ala3856=
XM_017009177.1:c.11568T>C	XP_016864666.1:p.Ala3856=
XM_017009178.1:c.10473T>C	XP_016864667.1:p.Ala3491=
XM_017009179.2:c.10473T>C	XP_016864668.1:p.Ala3491=
XM_017009180.1:c.11568T>C	XP_016864669.1:p.Ala3856=
XM_017009181.1:c.11568T>C	XP_016864670.1:p.Ala3856=
XM_017009182.1:c.11324T>C	XP_016864671.1:p.Leu3775Pro
XM_017009185.1:c.6657T>C	XP_016864674.1:p.Ala2219=
XM_017009186.1:c.6210T>C	XP_016864675.1:p.Ala2070=
XM_017009188.1:c.5547T>C	XP_016864677.1:p.Ala1849=
XM_024454388.1:c.10473T>C	XP_024310156.1:p.Ala3491=
XM_024454389.1:c.10062T>C	XP_024310157.1:p.Ala3354=
NM_001369.3:c.11460T>C MANE Select	NP_001360.1:p.Ala3820=