Canonical Allele Identifier: CA359220131

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13729512C>T , CM000667.2:g.13729512C>T	GRCh38
NC_000005.9:g.13729621C>T , CM000667.1:g.13729621C>T	GRCh37
NC_000005.8:g.13782621C>T	NCBI36
NG_013081.1:g.219969G>A
NG_013081.2:g.219969G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11810G>A MANE Select	NP_001360.1:p.Trp3937Ter
ENST00000265104.5:c.11810G>A MANE Select	ENSP00000265104.4:p.Trp3937Ter
NM_001369.2:c.11810G>A	NP_001360.1:p.Trp3937Ter
ENST00000265104.4:c.11810G>A	ENSP00000265104.4:p.Trp3937Ter
ENST00000681290.1:c.11765G>A	ENSP00000505288.1:p.Trp3922Ter
XM_005248262.2:c.11765G>A	XP_005248319.1:p.Trp3922Ter
XM_005248262.3:c.11918G>A	XP_005248319.2:p.Trp3973Ter
XM_017009177.1:c.11918G>A	XP_016864666.1:p.Trp3973Ter
XM_017009178.1:c.10823G>A	XP_016864667.1:p.Trp3608Ter
XM_017009179.2:c.10823G>A	XP_016864668.1:p.Trp3608Ter
XM_017009180.1:c.11918G>A	XP_016864669.1:p.Trp3973Ter
XM_017009181.1:c.11870-1856G>A	XP_016864670.1:n.11870-1856G>A
XM_017009185.1:c.7007G>A	XP_016864674.1:p.Trp2336Ter
XM_017009186.1:c.6560G>A	XP_016864675.1:p.Trp2187Ter
XM_017009188.1:c.5897G>A	XP_016864677.1:p.Trp1966Ter
XM_024454388.1:c.10823G>A	XP_024310156.1:p.Trp3608Ter
XM_024454389.1:c.10412G>A	XP_024310157.1:p.Trp3471Ter