Canonical Allele Identifier: CA3201943

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735912G>A , CM000667.2:g.13735912G>A	GRCh38
NC_000005.9:g.13736021G>A , CM000667.1:g.13736021G>A	GRCh37
NC_000005.8:g.13789021G>A	NCBI36
NG_013081.1:g.213569C>T
NG_013081.2:g.213569C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11476C>T MANE Select	NP_001360.1:p.Leu3826Phe
ENST00000265104.5:c.11476C>T MANE Select	ENSP00000265104.4:p.Leu3826Phe
NM_001369.2:c.11476C>T	NP_001360.1:p.Leu3826Phe
ENST00000265104.4:c.11476C>T	ENSP00000265104.4:p.Leu3826Phe
ENST00000681290.1:c.11431C>T	ENSP00000505288.1:p.Leu3811Phe
XM_005248262.2:c.11431C>T	XP_005248319.1:p.Leu3811Phe
XM_005248262.3:c.11584C>T	XP_005248319.2:p.Leu3862Phe
XM_017009177.1:c.11584C>T	XP_016864666.1:p.Leu3862Phe
XM_017009178.1:c.10489C>T	XP_016864667.1:p.Leu3497Phe
XM_017009179.2:c.10489C>T	XP_016864668.1:p.Leu3497Phe
XM_017009180.1:c.11584C>T	XP_016864669.1:p.Leu3862Phe
XM_017009181.1:c.11584C>T	XP_016864670.1:p.Leu3862Phe
XM_017009182.1:c.11340C>T	XP_016864671.1:p.Ser3780=
XM_017009185.1:c.6673C>T	XP_016864674.1:p.Leu2225Phe
XM_017009186.1:c.6226C>T	XP_016864675.1:p.Leu2076Phe
XM_017009188.1:c.5563C>T	XP_016864677.1:p.Leu1855Phe
XM_024454388.1:c.10489C>T	XP_024310156.1:p.Leu3497Phe
XM_024454389.1:c.10078C>T	XP_024310157.1:p.Leu3360Phe