Canonical Allele Identifier: CA359188516

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692112A>C (hg19) ; chr5:g.13692003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692003A>C , CM000667.2:g.13692003A>C	GRCh38
NC_000005.9:g.13692112A>C , CM000667.1:g.13692112A>C	GRCh37
NC_000005.8:g.13745112A>C	NCBI36
NG_013081.1:g.257478T>G
NG_013081.2:g.257478T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1189T>G
ENST00000265104.5:c.13856T>G MANE Select	ENSP00000265104.4:p.Leu4619Arg
ENST00000681290.1:c.13811T>G	ENSP00000505288.1:p.Leu4604Arg
ENST00000265104.4:c.13856T>G	ENSP00000265104.4:p.Leu4619Arg
NM_001369.2:c.13856T>G	NP_001360.1:p.Leu4619Arg
XM_005248262.2:c.13811T>G	XP_005248319.1:p.Leu4604Arg
XM_005248262.3:c.13964T>G	XP_005248319.2:p.Leu4655Arg
XM_017009177.1:c.13544T>G	XP_016864666.1:p.Leu4515Arg
XM_017009178.1:c.12869T>G	XP_016864667.1:p.Leu4290Arg
XM_017009179.2:c.12869T>G	XP_016864668.1:p.Leu4290Arg
XM_017009185.1:c.9053T>G	XP_016864674.1:p.Leu3018Arg
XM_017009186.1:c.8606T>G	XP_016864675.1:p.Leu2869Arg
XM_017009188.1:c.7943T>G	XP_016864677.1:p.Leu2648Arg
XM_024454388.1:c.12869T>G	XP_024310156.1:p.Leu4290Arg
XM_024454389.1:c.12458T>G	XP_024310157.1:p.Leu4153Arg
NM_001369.3:c.13856T>G MANE Select	NP_001360.1:p.Leu4619Arg