Canonical Allele Identifier: CA443251333

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708379T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708270T>G , CM000667.2:g.13708270T>G	GRCh38
NC_000005.9:g.13708379T>G , CM000667.1:g.13708379T>G	GRCh37
NC_000005.8:g.13761379T>G	NCBI36
NG_013081.1:g.241211A>C
NG_013081.2:g.241211A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.524A>C
ENST00000265104.5:c.13191A>C MANE Select	ENSP00000265104.4:p.Ile4397=
ENST00000681290.1:c.13146A>C	ENSP00000505288.1:p.Ile4382=
ENST00000265104.4:c.13191A>C	ENSP00000265104.4:p.Ile4397=
NM_001369.2:c.13191A>C	NP_001360.1:p.Ile4397=
XM_005248262.2:c.13146A>C	XP_005248319.1:p.Ile4382=
XM_005248262.3:c.13299A>C	XP_005248319.2:p.Ile4433=
XM_017009177.1:c.12879A>C	XP_016864666.1:p.Ile4293=
XM_017009178.1:c.12204A>C	XP_016864667.1:p.Ile4068=
XM_017009179.2:c.12204A>C	XP_016864668.1:p.Ile4068=
XM_017009185.1:c.8388A>C	XP_016864674.1:p.Ile2796=
XM_017009186.1:c.7941A>C	XP_016864675.1:p.Ile2647=
XM_017009188.1:c.7278A>C	XP_016864677.1:p.Ile2426=
XM_024454388.1:c.12204A>C	XP_024310156.1:p.Ile4068=
XM_024454389.1:c.11793A>C	XP_024310157.1:p.Ile3931=
NM_001369.3:c.13191A>C MANE Select	NP_001360.1:p.Ile4397=