Canonical Allele Identifier: CA443251291

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708352A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708243A>C , CM000667.2:g.13708243A>C	GRCh38
NC_000005.9:g.13708352A>C , CM000667.1:g.13708352A>C	GRCh37
NC_000005.8:g.13761352A>C	NCBI36
NG_013081.1:g.241238T>G
NG_013081.2:g.241238T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.551T>G
ENST00000265104.5:c.13218T>G MANE Select	ENSP00000265104.4:p.Leu4406=
ENST00000681290.1:c.13173T>G	ENSP00000505288.1:p.Leu4391=
ENST00000265104.4:c.13218T>G	ENSP00000265104.4:p.Leu4406=
NM_001369.2:c.13218T>G	NP_001360.1:p.Leu4406=
XM_005248262.2:c.13173T>G	XP_005248319.1:p.Leu4391=
XM_005248262.3:c.13326T>G	XP_005248319.2:p.Leu4442=
XM_017009177.1:c.12906T>G	XP_016864666.1:p.Leu4302=
XM_017009178.1:c.12231T>G	XP_016864667.1:p.Leu4077=
XM_017009179.2:c.12231T>G	XP_016864668.1:p.Leu4077=
XM_017009185.1:c.8415T>G	XP_016864674.1:p.Leu2805=
XM_017009186.1:c.7968T>G	XP_016864675.1:p.Leu2656=
XM_017009188.1:c.7305T>G	XP_016864677.1:p.Leu2435=
XM_024454388.1:c.12231T>G	XP_024310156.1:p.Leu4077=
XM_024454389.1:c.11820T>G	XP_024310157.1:p.Leu3940=
NM_001369.3:c.13218T>G MANE Select	NP_001360.1:p.Leu4406=