Canonical Allele Identifier: CA359196623

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708276A>C (hg19) ; chr5:g.13708167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708167A>C , CM000667.2:g.13708167A>C	GRCh38
NC_000005.9:g.13708276A>C , CM000667.1:g.13708276A>C	GRCh37
NC_000005.8:g.13761276A>C	NCBI36
NG_013081.1:g.241314T>G
NG_013081.2:g.241314T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.627T>G
ENST00000265104.5:c.13294T>G MANE Select	ENSP00000265104.4:p.Leu4432Val
ENST00000681290.1:c.13249T>G	ENSP00000505288.1:p.Leu4417Val
ENST00000265104.4:c.13294T>G	ENSP00000265104.4:p.Leu4432Val
NM_001369.2:c.13294T>G	NP_001360.1:p.Leu4432Val
XM_005248262.2:c.13249T>G	XP_005248319.1:p.Leu4417Val
XM_005248262.3:c.13402T>G	XP_005248319.2:p.Leu4468Val
XM_017009177.1:c.12982T>G	XP_016864666.1:p.Leu4328Val
XM_017009178.1:c.12307T>G	XP_016864667.1:p.Leu4103Val
XM_017009179.2:c.12307T>G	XP_016864668.1:p.Leu4103Val
XM_017009185.1:c.8491T>G	XP_016864674.1:p.Leu2831Val
XM_017009186.1:c.8044T>G	XP_016864675.1:p.Leu2682Val
XM_017009188.1:c.7381T>G	XP_016864677.1:p.Leu2461Val
XM_024454388.1:c.12307T>G	XP_024310156.1:p.Leu4103Val
XM_024454389.1:c.11896T>G	XP_024310157.1:p.Leu3966Val
NM_001369.3:c.13294T>G MANE Select	NP_001360.1:p.Leu4432Val