Canonical Allele Identifier: CA443535321

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 765562
• ClinVar RCV Id: RCV001435496
• dbSNP Id: rs1280894186
• gnomAD v2: 5-13870963-G-A
• gnomAD v4: 5-13870854-G-A
• MyVariant Identifiers: chr5:g.13870963G>A (hg19) ; chr5:g.13870854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870854G>A , CM000667.2:g.13870854G>A	GRCh38
NC_000005.9:g.13870963G>A , CM000667.1:g.13870963G>A	GRCh37
NC_000005.8:g.13923963G>A	NCBI36
NG_013081.1:g.78627C>T
NG_013081.2:g.78627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3747C>T MANE Select	ENSP00000265104.4:p.Asp1249=
ENST00000681290.1:c.3702C>T	ENSP00000505288.1:p.Asp1234=
ENST00000265104.4:c.3747C>T	ENSP00000265104.4:p.Asp1249=
NM_001369.2:c.3747C>T	NP_001360.1:p.Asp1249=
XM_005248262.2:c.3702C>T	XP_005248319.1:p.Asp1234=
XM_011513990.1:c.3747C>T	XP_011512292.1:p.Asp1249=
XR_925598.1:n.3954C>T
XM_005248262.3:c.3855C>T	XP_005248319.2:p.Asp1285=
XM_017009177.1:c.3855C>T	XP_016864666.1:p.Asp1285=
XM_017009178.1:c.2760C>T	XP_016864667.1:p.Asp920=
XM_017009179.2:c.2760C>T	XP_016864668.1:p.Asp920=
XM_017009180.1:c.3855C>T	XP_016864669.1:p.Asp1285=
XM_017009181.1:c.3855C>T	XP_016864670.1:p.Asp1285=
XM_017009182.1:c.3855C>T	XP_016864671.1:p.Asp1285=
XM_017009183.1:c.3855C>T	XP_016864672.1:p.Asp1285=
XM_017009184.1:c.3855C>T	XP_016864673.1:p.Asp1285=
XM_017009187.1:c.3855C>T	XP_016864676.1:p.Asp1285=
XM_024454388.1:c.2760C>T	XP_024310156.1:p.Asp920=
XM_024454389.1:c.2349C>T	XP_024310157.1:p.Asp783=
XR_001742034.1:n.3872C>T
XR_001742035.1:n.3872C>T
NM_001369.3:c.3747C>T MANE Select	NP_001360.1:p.Asp1249=