Canonical Allele Identifier: CA359197287

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708353A>C (hg19) ; chr5:g.13708244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708244A>C , CM000667.2:g.13708244A>C	GRCh38
NC_000005.9:g.13708353A>C , CM000667.1:g.13708353A>C	GRCh37
NC_000005.8:g.13761353A>C	NCBI36
NG_013081.1:g.241237T>G
NG_013081.2:g.241237T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.550T>G
ENST00000265104.5:c.13217T>G MANE Select	ENSP00000265104.4:p.Leu4406Arg
ENST00000681290.1:c.13172T>G	ENSP00000505288.1:p.Leu4391Arg
ENST00000265104.4:c.13217T>G	ENSP00000265104.4:p.Leu4406Arg
NM_001369.2:c.13217T>G	NP_001360.1:p.Leu4406Arg
XM_005248262.2:c.13172T>G	XP_005248319.1:p.Leu4391Arg
XM_005248262.3:c.13325T>G	XP_005248319.2:p.Leu4442Arg
XM_017009177.1:c.12905T>G	XP_016864666.1:p.Leu4302Arg
XM_017009178.1:c.12230T>G	XP_016864667.1:p.Leu4077Arg
XM_017009179.2:c.12230T>G	XP_016864668.1:p.Leu4077Arg
XM_017009185.1:c.8414T>G	XP_016864674.1:p.Leu2805Arg
XM_017009186.1:c.7967T>G	XP_016864675.1:p.Leu2656Arg
XM_017009188.1:c.7304T>G	XP_016864677.1:p.Leu2435Arg
XM_024454388.1:c.12230T>G	XP_024310156.1:p.Leu4077Arg
XM_024454389.1:c.11819T>G	XP_024310157.1:p.Leu3940Arg
NM_001369.3:c.13217T>G MANE Select	NP_001360.1:p.Leu4406Arg