Canonical Allele Identifier: CA359197353

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708359A>T (hg19) ; chr5:g.13708250A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708250A>T , CM000667.2:g.13708250A>T	GRCh38
NC_000005.9:g.13708359A>T , CM000667.1:g.13708359A>T	GRCh37
NC_000005.8:g.13761359A>T	NCBI36
NG_013081.1:g.241231T>A
NG_013081.2:g.241231T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.544T>A
ENST00000265104.5:c.13211T>A MANE Select	ENSP00000265104.4:p.Leu4404His
ENST00000681290.1:c.13166T>A	ENSP00000505288.1:p.Leu4389His
ENST00000265104.4:c.13211T>A	ENSP00000265104.4:p.Leu4404His
NM_001369.2:c.13211T>A	NP_001360.1:p.Leu4404His
XM_005248262.2:c.13166T>A	XP_005248319.1:p.Leu4389His
XM_005248262.3:c.13319T>A	XP_005248319.2:p.Leu4440His
XM_017009177.1:c.12899T>A	XP_016864666.1:p.Leu4300His
XM_017009178.1:c.12224T>A	XP_016864667.1:p.Leu4075His
XM_017009179.2:c.12224T>A	XP_016864668.1:p.Leu4075His
XM_017009185.1:c.8408T>A	XP_016864674.1:p.Leu2803His
XM_017009186.1:c.7961T>A	XP_016864675.1:p.Leu2654His
XM_017009188.1:c.7298T>A	XP_016864677.1:p.Leu2433His
XM_024454388.1:c.12224T>A	XP_024310156.1:p.Leu4075His
XM_024454389.1:c.11813T>A	XP_024310157.1:p.Leu3938His
NM_001369.3:c.13211T>A MANE Select	NP_001360.1:p.Leu4404His