Canonical Allele Identifier: CA443253893

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1145290
• ClinVar RCV Id: RCV001484068
• dbSNP Id: rs2126776667
• gnomAD v4: 5-13769083-C-T
• MyVariant Identifiers: chr5:g.13769192C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769083C>T , CM000667.2:g.13769083C>T	GRCh38
NC_000005.9:g.13769192C>T , CM000667.1:g.13769192C>T	GRCh37
NC_000005.8:g.13822192C>T	NCBI36
NG_013081.1:g.180398G>A
NG_013081.2:g.180398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9774G>A MANE Select	ENSP00000265104.4:p.Glu3258=
ENST00000681290.1:c.9729G>A	ENSP00000505288.1:p.Glu3243=
ENST00000265104.4:c.9774G>A	ENSP00000265104.4:p.Glu3258=
ENST00000504001.3:n.486G>A
NM_001369.2:c.9774G>A	NP_001360.1:p.Glu3258=
XM_005248262.2:c.9729G>A	XP_005248319.1:p.Glu3243=
XM_005248262.3:c.9882G>A	XP_005248319.2:p.Glu3294=
XM_017009177.1:c.9882G>A	XP_016864666.1:p.Glu3294=
XM_017009178.1:c.8787G>A	XP_016864667.1:p.Glu2929=
XM_017009179.2:c.8787G>A	XP_016864668.1:p.Glu2929=
XM_017009180.1:c.9882G>A	XP_016864669.1:p.Glu3294=
XM_017009181.1:c.9882G>A	XP_016864670.1:p.Glu3294=
XM_017009182.1:c.9882G>A	XP_016864671.1:p.Glu3294=
XM_017009185.1:c.4971G>A	XP_016864674.1:p.Glu1657=
XM_017009186.1:c.4524G>A	XP_016864675.1:p.Glu1508=
XM_017009188.1:c.3861G>A	XP_016864677.1:p.Glu1287=
XM_024454388.1:c.8787G>A	XP_024310156.1:p.Glu2929=
XM_024454389.1:c.8376G>A	XP_024310157.1:p.Glu2792=
NM_001369.3:c.9774G>A MANE Select	NP_001360.1:p.Glu3258=