Canonical Allele Identifier: CA443535746

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2180807
• ClinVar RCV Id: RCV002619447
• dbSNP Id: rs1284767820
• gnomAD v2: 5-13776765-C-T
• gnomAD v4: 5-13776656-C-T
• MyVariant Identifiers: chr5:g.13776765C>T (hg19) ; chr5:g.13776656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776656C>T , CM000667.2:g.13776656C>T	GRCh38
NC_000005.9:g.13776765C>T , CM000667.1:g.13776765C>T	GRCh37
NC_000005.8:g.13829765C>T	NCBI36
NG_013081.1:g.172825G>A
NG_013081.2:g.172825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9156G>A MANE Select	ENSP00000265104.4:p.Leu3052=
ENST00000681290.1:c.9111G>A	ENSP00000505288.1:p.Leu3037=
ENST00000265104.4:c.9156G>A	ENSP00000265104.4:p.Leu3052=
NM_001369.2:c.9156G>A	NP_001360.1:p.Leu3052=
XM_005248262.2:c.9111G>A	XP_005248319.1:p.Leu3037=
XM_011513990.1:c.*43G>A	XP_011512292.1:n.*43G>A
XR_925598.1:n.9227G>A
XM_005248262.3:c.9264G>A	XP_005248319.2:p.Leu3088=
XM_017009177.1:c.9264G>A	XP_016864666.1:p.Leu3088=
XM_017009178.1:c.8169G>A	XP_016864667.1:p.Leu2723=
XM_017009179.2:c.8169G>A	XP_016864668.1:p.Leu2723=
XM_017009180.1:c.9264G>A	XP_016864669.1:p.Leu3088=
XM_017009181.1:c.9264G>A	XP_016864670.1:p.Leu3088=
XM_017009182.1:c.9264G>A	XP_016864671.1:p.Leu3088=
XM_017009183.1:c.9264G>A	XP_016864672.1:p.Leu3088=
XM_017009184.1:c.*43G>A	XP_016864673.1:n.*43G>A
XM_017009185.1:c.4353G>A	XP_016864674.1:p.Leu1451=
XM_017009186.1:c.3906G>A	XP_016864675.1:p.Leu1302=
XM_017009188.1:c.3243G>A	XP_016864677.1:p.Leu1081=
XM_024454388.1:c.8169G>A	XP_024310156.1:p.Leu2723=
XM_024454389.1:c.7758G>A	XP_024310157.1:p.Leu2586=
XR_001742034.1:n.9150G>A
XR_001742035.1:n.9145G>A
NM_001369.3:c.9156G>A MANE Select	NP_001360.1:p.Leu3052=