Canonical Allele Identifier: CA359221020

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1916942
• ClinVar RCV Id: RCV002625463
• dbSNP Id: rs1161099550
• gnomAD v2: 5-13793659-G-A
• gnomAD v3: 5-13793550-G-A
• gnomAD v4: 5-13793550-G-A
• MyVariant Identifiers: chr5:g.13793659G>A (hg19) ; chr5:g.13793550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793550G>A , CM000667.2:g.13793550G>A	GRCh38
NC_000005.9:g.13793659G>A , CM000667.1:g.13793659G>A	GRCh37
NC_000005.8:g.13846659G>A	NCBI36
NG_013081.1:g.155931C>T
NG_013081.2:g.155931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8189C>T MANE Select	ENSP00000265104.4:p.Thr2730Met
ENST00000681290.1:c.8144C>T	ENSP00000505288.1:p.Thr2715Met
ENST00000265104.4:c.8189C>T	ENSP00000265104.4:p.Thr2730Met
NM_001369.2:c.8189C>T	NP_001360.1:p.Thr2730Met
XM_005248262.2:c.8144C>T	XP_005248319.1:p.Thr2715Met
XM_011513990.1:c.8189C>T	XP_011512292.1:p.Thr2730Met
XR_925598.1:n.8396C>T
XM_005248262.3:c.8297C>T	XP_005248319.2:p.Thr2766Met
XM_017009177.1:c.8297C>T	XP_016864666.1:p.Thr2766Met
XM_017009178.1:c.7202C>T	XP_016864667.1:p.Thr2401Met
XM_017009179.2:c.7202C>T	XP_016864668.1:p.Thr2401Met
XM_017009180.1:c.8297C>T	XP_016864669.1:p.Thr2766Met
XM_017009181.1:c.8297C>T	XP_016864670.1:p.Thr2766Met
XM_017009182.1:c.8297C>T	XP_016864671.1:p.Thr2766Met
XM_017009183.1:c.8297C>T	XP_016864672.1:p.Thr2766Met
XM_017009184.1:c.8297C>T	XP_016864673.1:p.Thr2766Met
XM_017009185.1:c.3386C>T	XP_016864674.1:p.Thr1129Met
XM_017009186.1:c.2939C>T	XP_016864675.1:p.Thr980Met
XM_017009188.1:c.2276C>T	XP_016864677.1:p.Thr759Met
XM_024454388.1:c.7202C>T	XP_024310156.1:p.Thr2401Met
XM_024454389.1:c.6791C>T	XP_024310157.1:p.Thr2264Met
XR_001742034.1:n.8314C>T
XR_001742035.1:n.8314C>T
NM_001369.3:c.8189C>T MANE Select	NP_001360.1:p.Thr2730Met