Canonical Allele Identifier: CA443248814

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692231A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692122A>C , CM000667.2:g.13692122A>C	GRCh38
NC_000005.9:g.13692231A>C , CM000667.1:g.13692231A>C	GRCh37
NC_000005.8:g.13745231A>C	NCBI36
NG_013081.1:g.257359T>G
NG_013081.2:g.257359T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1070T>G
ENST00000265104.5:c.13737T>G MANE Select	ENSP00000265104.4:p.Pro4579=
ENST00000681290.1:c.13692T>G	ENSP00000505288.1:p.Pro4564=
ENST00000265104.4:c.13737T>G	ENSP00000265104.4:p.Pro4579=
NM_001369.2:c.13737T>G	NP_001360.1:p.Pro4579=
XM_005248262.2:c.13692T>G	XP_005248319.1:p.Pro4564=
XM_005248262.3:c.13845T>G	XP_005248319.2:p.Pro4615=
XM_017009177.1:c.13425T>G	XP_016864666.1:p.Pro4475=
XM_017009178.1:c.12750T>G	XP_016864667.1:p.Pro4250=
XM_017009179.2:c.12750T>G	XP_016864668.1:p.Pro4250=
XM_017009185.1:c.8934T>G	XP_016864674.1:p.Pro2978=
XM_017009186.1:c.8487T>G	XP_016864675.1:p.Pro2829=
XM_017009188.1:c.7824T>G	XP_016864677.1:p.Pro2608=
XM_024454388.1:c.12750T>G	XP_024310156.1:p.Pro4250=
XM_024454389.1:c.12339T>G	XP_024310157.1:p.Pro4113=
NM_001369.3:c.13737T>G MANE Select	NP_001360.1:p.Pro4579=