Canonical Allele Identifier: CA443536010

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13721129A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721020A>G , CM000667.2:g.13721020A>G	GRCh38
NC_000005.9:g.13721129A>G , CM000667.1:g.13721129A>G	GRCh37
NC_000005.8:g.13774129A>G	NCBI36
NG_013081.1:g.228461T>C
NG_013081.2:g.228461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12259T>C MANE Select	ENSP00000265104.4:p.Leu4087=
ENST00000681290.1:c.12214T>C	ENSP00000505288.1:p.Leu4072=
ENST00000265104.4:c.12259T>C	ENSP00000265104.4:p.Leu4087=
NM_001369.2:c.12259T>C	NP_001360.1:p.Leu4087=
XM_005248262.2:c.12214T>C	XP_005248319.1:p.Leu4072=
XM_005248262.3:c.12367T>C	XP_005248319.2:p.Leu4123=
XM_017009177.1:c.12367T>C	XP_016864666.1:p.Leu4123=
XM_017009178.1:c.11272T>C	XP_016864667.1:p.Leu3758=
XM_017009179.2:c.11272T>C	XP_016864668.1:p.Leu3758=
XM_017009180.1:c.12367T>C	XP_016864669.1:p.Leu4123=
XM_017009185.1:c.7456T>C	XP_016864674.1:p.Leu2486=
XM_017009186.1:c.7009T>C	XP_016864675.1:p.Leu2337=
XM_017009188.1:c.6346T>C	XP_016864677.1:p.Leu2116=
XM_024454388.1:c.11272T>C	XP_024310156.1:p.Leu3758=
XM_024454389.1:c.10861T>C	XP_024310157.1:p.Leu3621=
NM_001369.3:c.12259T>C MANE Select	NP_001360.1:p.Leu4087=