Canonical Allele Identifier: CA443248857

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692243A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692134A>G , CM000667.2:g.13692134A>G	GRCh38
NC_000005.9:g.13692243A>G , CM000667.1:g.13692243A>G	GRCh37
NC_000005.8:g.13745243A>G	NCBI36
NG_013081.1:g.257347T>C
NG_013081.2:g.257347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1058T>C
ENST00000265104.5:c.13725T>C MANE Select	ENSP00000265104.4:p.Thr4575=
ENST00000681290.1:c.13680T>C	ENSP00000505288.1:p.Thr4560=
ENST00000265104.4:c.13725T>C	ENSP00000265104.4:p.Thr4575=
NM_001369.2:c.13725T>C	NP_001360.1:p.Thr4575=
XM_005248262.2:c.13680T>C	XP_005248319.1:p.Thr4560=
XM_005248262.3:c.13833T>C	XP_005248319.2:p.Thr4611=
XM_017009177.1:c.13413T>C	XP_016864666.1:p.Thr4471=
XM_017009178.1:c.12738T>C	XP_016864667.1:p.Thr4246=
XM_017009179.2:c.12738T>C	XP_016864668.1:p.Thr4246=
XM_017009185.1:c.8922T>C	XP_016864674.1:p.Thr2974=
XM_017009186.1:c.8475T>C	XP_016864675.1:p.Thr2825=
XM_017009188.1:c.7812T>C	XP_016864677.1:p.Thr2604=
XM_024454388.1:c.12738T>C	XP_024310156.1:p.Thr4246=
XM_024454389.1:c.12327T>C	XP_024310157.1:p.Thr4109=
NM_001369.3:c.13725T>C MANE Select	NP_001360.1:p.Thr4575=