Canonical Allele Identifier: CA3204513

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2197352
• ClinVar RCV Id: RCV002651321
• dbSNP Id: rs781678211
• ExAC: 5:13886081 T / A
• gnomAD v2: 5-13886081-T-A
• gnomAD v4: 5-13885972-T-A
• MyVariant Identifiers: chr5:g.13886081T>A (hg19) ; chr5:g.13885972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885972T>A , CM000667.2:g.13885972T>A	GRCh38
NC_000005.9:g.13886081T>A , CM000667.1:g.13886081T>A	GRCh37
NC_000005.8:g.13939081T>A	NCBI36
NG_013081.1:g.63509A>T
NG_013081.2:g.63509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2735A>T MANE Select	ENSP00000265104.4:p.Glu912Val
ENST00000681290.1:c.2690A>T	ENSP00000505288.1:p.Glu897Val
ENST00000265104.4:c.2735A>T	ENSP00000265104.4:p.Glu912Val
NM_001369.2:c.2735A>T	NP_001360.1:p.Glu912Val
XM_005248262.2:c.2690A>T	XP_005248319.1:p.Glu897Val
XM_011513990.1:c.2735A>T	XP_011512292.1:p.Glu912Val
XR_925598.1:n.2942A>T
XM_005248262.3:c.2843A>T	XP_005248319.2:p.Glu948Val
XM_017009177.1:c.2843A>T	XP_016864666.1:p.Glu948Val
XM_017009178.1:c.1748A>T	XP_016864667.1:p.Glu583Val
XM_017009179.2:c.1748A>T	XP_016864668.1:p.Glu583Val
XM_017009180.1:c.2843A>T	XP_016864669.1:p.Glu948Val
XM_017009181.1:c.2843A>T	XP_016864670.1:p.Glu948Val
XM_017009182.1:c.2843A>T	XP_016864671.1:p.Glu948Val
XM_017009183.1:c.2843A>T	XP_016864672.1:p.Glu948Val
XM_017009184.1:c.2843A>T	XP_016864673.1:p.Glu948Val
XM_017009187.1:c.2843A>T	XP_016864676.1:p.Glu948Val
XM_024454388.1:c.1748A>T	XP_024310156.1:p.Glu583Val
XM_024454389.1:c.1337A>T	XP_024310157.1:p.Glu446Val
XR_001742034.1:n.2860A>T
XR_001742035.1:n.2860A>T
NM_001369.3:c.2735A>T MANE Select	NP_001360.1:p.Glu912Val