Canonical Allele Identifier: CA359224511

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13735822-C-T
• MyVariant Identifiers: chr5:g.13735931C>T (hg19) ; chr5:g.13735822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735822C>T , CM000667.2:g.13735822C>T	GRCh38
NC_000005.9:g.13735931C>T , CM000667.1:g.13735931C>T	GRCh37
NC_000005.8:g.13788931C>T	NCBI36
NG_013081.1:g.213659G>A
NG_013081.2:g.213659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11566G>A MANE Select	ENSP00000265104.4:p.Ala3856Thr
ENST00000681290.1:c.11521G>A	ENSP00000505288.1:p.Ala3841Thr
ENST00000265104.4:c.11566G>A	ENSP00000265104.4:p.Ala3856Thr
NM_001369.2:c.11566G>A	NP_001360.1:p.Ala3856Thr
XM_005248262.2:c.11521G>A	XP_005248319.1:p.Ala3841Thr
XM_005248262.3:c.11674G>A	XP_005248319.2:p.Ala3892Thr
XM_017009177.1:c.11674G>A	XP_016864666.1:p.Ala3892Thr
XM_017009178.1:c.10579G>A	XP_016864667.1:p.Ala3527Thr
XM_017009179.2:c.10579G>A	XP_016864668.1:p.Ala3527Thr
XM_017009180.1:c.11674G>A	XP_016864669.1:p.Ala3892Thr
XM_017009181.1:c.11674G>A	XP_016864670.1:p.Ala3892Thr
XM_017009182.1:c.11430G>A	XP_016864671.1:p.Ter3810=
XM_017009185.1:c.6763G>A	XP_016864674.1:p.Ala2255Thr
XM_017009186.1:c.6316G>A	XP_016864675.1:p.Ala2106Thr
XM_017009188.1:c.5653G>A	XP_016864677.1:p.Ala1885Thr
XM_024454388.1:c.10579G>A	XP_024310156.1:p.Ala3527Thr
XM_024454389.1:c.10168G>A	XP_024310157.1:p.Ala3390Thr
NM_001369.3:c.11566G>A MANE Select	NP_001360.1:p.Ala3856Thr