Canonical Allele Identifier: CA359197044

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708330G>T (hg19) ; chr5:g.13708221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708221G>T , CM000667.2:g.13708221G>T	GRCh38
NC_000005.9:g.13708330G>T , CM000667.1:g.13708330G>T	GRCh37
NC_000005.8:g.13761330G>T	NCBI36
NG_013081.1:g.241260C>A
NG_013081.2:g.241260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.573C>A
ENST00000265104.5:c.13240C>A MANE Select	ENSP00000265104.4:p.Leu4414Met
ENST00000681290.1:c.13195C>A	ENSP00000505288.1:p.Leu4399Met
ENST00000265104.4:c.13240C>A	ENSP00000265104.4:p.Leu4414Met
NM_001369.2:c.13240C>A	NP_001360.1:p.Leu4414Met
XM_005248262.2:c.13195C>A	XP_005248319.1:p.Leu4399Met
XM_005248262.3:c.13348C>A	XP_005248319.2:p.Leu4450Met
XM_017009177.1:c.12928C>A	XP_016864666.1:p.Leu4310Met
XM_017009178.1:c.12253C>A	XP_016864667.1:p.Leu4085Met
XM_017009179.2:c.12253C>A	XP_016864668.1:p.Leu4085Met
XM_017009185.1:c.8437C>A	XP_016864674.1:p.Leu2813Met
XM_017009186.1:c.7990C>A	XP_016864675.1:p.Leu2664Met
XM_017009188.1:c.7327C>A	XP_016864677.1:p.Leu2443Met
XM_024454388.1:c.12253C>A	XP_024310156.1:p.Leu4085Met
XM_024454389.1:c.11842C>A	XP_024310157.1:p.Leu3948Met
NM_001369.3:c.13240C>A MANE Select	NP_001360.1:p.Leu4414Met