Canonical Allele Identifier: CA443260247

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735935G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735826G>C , CM000667.2:g.13735826G>C	GRCh38
NC_000005.9:g.13735935G>C , CM000667.1:g.13735935G>C	GRCh37
NC_000005.8:g.13788935G>C	NCBI36
NG_013081.1:g.213655C>G
NG_013081.2:g.213655C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11562C>G MANE Select	ENSP00000265104.4:p.Ser3854=
ENST00000681290.1:c.11517C>G	ENSP00000505288.1:p.Ser3839=
ENST00000265104.4:c.11562C>G	ENSP00000265104.4:p.Ser3854=
NM_001369.2:c.11562C>G	NP_001360.1:p.Ser3854=
XM_005248262.2:c.11517C>G	XP_005248319.1:p.Ser3839=
XM_005248262.3:c.11670C>G	XP_005248319.2:p.Ser3890=
XM_017009177.1:c.11670C>G	XP_016864666.1:p.Ser3890=
XM_017009178.1:c.10575C>G	XP_016864667.1:p.Ser3525=
XM_017009179.2:c.10575C>G	XP_016864668.1:p.Ser3525=
XM_017009180.1:c.11670C>G	XP_016864669.1:p.Ser3890=
XM_017009181.1:c.11670C>G	XP_016864670.1:p.Ser3890=
XM_017009182.1:c.11426C>G	XP_016864671.1:p.Pro3809Arg
XM_017009185.1:c.6759C>G	XP_016864674.1:p.Ser2253=
XM_017009186.1:c.6312C>G	XP_016864675.1:p.Ser2104=
XM_017009188.1:c.5649C>G	XP_016864677.1:p.Ser1883=
XM_024454388.1:c.10575C>G	XP_024310156.1:p.Ser3525=
XM_024454389.1:c.10164C>G	XP_024310157.1:p.Ser3388=
NM_001369.3:c.11562C>G MANE Select	NP_001360.1:p.Ser3854=