Canonical Allele Identifier: CA3202513

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 907486
• ClinVar RCV Id: RCV001157369
• dbSNP Id: rs373510512
• ExAC: 5:13770890 T / C
• gnomAD v2: 5-13770890-T-C
• gnomAD v4: 5-13770781-T-C
• MyVariant Identifiers: chr5:g.13770890T>C (hg19) ; chr5:g.13770781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770781T>C , CM000667.2:g.13770781T>C	GRCh38
NC_000005.9:g.13770890T>C , CM000667.1:g.13770890T>C	GRCh37
NC_000005.8:g.13823890T>C	NCBI36
NG_013081.1:g.178700A>G
NG_013081.2:g.178700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9573A>G MANE Select	ENSP00000265104.4:p.Glu3191=
ENST00000681290.1:c.9528A>G	ENSP00000505288.1:p.Glu3176=
ENST00000265104.4:c.9573A>G	ENSP00000265104.4:p.Glu3191=
ENST00000504001.3:n.285A>G
NM_001369.2:c.9573A>G	NP_001360.1:p.Glu3191=
XM_005248262.2:c.9528A>G	XP_005248319.1:p.Glu3176=
XM_005248262.3:c.9681A>G	XP_005248319.2:p.Glu3227=
XM_017009177.1:c.9681A>G	XP_016864666.1:p.Glu3227=
XM_017009178.1:c.8586A>G	XP_016864667.1:p.Glu2862=
XM_017009179.2:c.8586A>G	XP_016864668.1:p.Glu2862=
XM_017009180.1:c.9681A>G	XP_016864669.1:p.Glu3227=
XM_017009181.1:c.9681A>G	XP_016864670.1:p.Glu3227=
XM_017009182.1:c.9681A>G	XP_016864671.1:p.Glu3227=
XM_017009183.1:c.9681A>G	XP_016864672.1:p.Glu3227=
XM_017009185.1:c.4770A>G	XP_016864674.1:p.Glu1590=
XM_017009186.1:c.4323A>G	XP_016864675.1:p.Glu1441=
XM_017009188.1:c.3660A>G	XP_016864677.1:p.Glu1220=
XM_024454388.1:c.8586A>G	XP_024310156.1:p.Glu2862=
XM_024454389.1:c.8175A>G	XP_024310157.1:p.Glu2725=
NM_001369.3:c.9573A>G MANE Select	NP_001360.1:p.Glu3191=