Canonical Allele Identifier: CA359203525

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716489G>A , CM000667.2:g.13716489G>A	GRCh38
NC_000005.9:g.13716598G>A , CM000667.1:g.13716598G>A	GRCh37
NC_000005.8:g.13769598G>A	NCBI36
NG_013081.1:g.232992C>T
NG_013081.2:g.232992C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12907C>T MANE Select	NP_001360.1:p.Gln4303Ter
ENST00000265104.5:c.12907C>T MANE Select	ENSP00000265104.4:p.Gln4303Ter
NM_001369.2:c.12907C>T	NP_001360.1:p.Gln4303Ter
ENST00000265104.4:c.12907C>T	ENSP00000265104.4:p.Gln4303Ter
ENST00000681290.1:c.12862C>T	ENSP00000505288.1:p.Gln4288Ter
XM_005248262.2:c.12862C>T	XP_005248319.1:p.Gln4288Ter
XM_005248262.3:c.13015C>T	XP_005248319.2:p.Gln4339Ter
XM_017009177.1:c.12813+826C>T	XP_016864666.1:n.12813+826C>T
XM_017009178.1:c.11920C>T	XP_016864667.1:p.Gln3974Ter
XM_017009179.2:c.11920C>T	XP_016864668.1:p.Gln3974Ter
XM_017009185.1:c.8104C>T	XP_016864674.1:p.Gln2702Ter
XM_017009186.1:c.7657C>T	XP_016864675.1:p.Gln2553Ter
XM_017009188.1:c.6994C>T	XP_016864677.1:p.Gln2332Ter
XM_024454388.1:c.11920C>T	XP_024310156.1:p.Gln3974Ter
XM_024454389.1:c.11509C>T	XP_024310157.1:p.Gln3837Ter