Canonical Allele Identifier: CA359202134

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1768147
• ClinVar RCV Id: RCV002376769
• gnomAD v4: 5-13769085-C-G
• MyVariant Identifiers: chr5:g.13769194C>G (hg19) ; chr5:g.13769085C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769085C>G , CM000667.2:g.13769085C>G	GRCh38
NC_000005.9:g.13769194C>G , CM000667.1:g.13769194C>G	GRCh37
NC_000005.8:g.13822194C>G	NCBI36
NG_013081.1:g.180396G>C
NG_013081.2:g.180396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9772G>C MANE Select	ENSP00000265104.4:p.Glu3258Gln
ENST00000681290.1:c.9727G>C	ENSP00000505288.1:p.Glu3243Gln
ENST00000265104.4:c.9772G>C	ENSP00000265104.4:p.Glu3258Gln
ENST00000504001.3:n.484G>C
NM_001369.2:c.9772G>C	NP_001360.1:p.Glu3258Gln
XM_005248262.2:c.9727G>C	XP_005248319.1:p.Glu3243Gln
XM_005248262.3:c.9880G>C	XP_005248319.2:p.Glu3294Gln
XM_017009177.1:c.9880G>C	XP_016864666.1:p.Glu3294Gln
XM_017009178.1:c.8785G>C	XP_016864667.1:p.Glu2929Gln
XM_017009179.2:c.8785G>C	XP_016864668.1:p.Glu2929Gln
XM_017009180.1:c.9880G>C	XP_016864669.1:p.Glu3294Gln
XM_017009181.1:c.9880G>C	XP_016864670.1:p.Glu3294Gln
XM_017009182.1:c.9880G>C	XP_016864671.1:p.Glu3294Gln
XM_017009185.1:c.4969G>C	XP_016864674.1:p.Glu1657Gln
XM_017009186.1:c.4522G>C	XP_016864675.1:p.Glu1508Gln
XM_017009188.1:c.3859G>C	XP_016864677.1:p.Glu1287Gln
XM_024454388.1:c.8785G>C	XP_024310156.1:p.Glu2929Gln
XM_024454389.1:c.8374G>C	XP_024310157.1:p.Glu2792Gln
NM_001369.3:c.9772G>C MANE Select	NP_001360.1:p.Glu3258Gln