Canonical Allele Identifier: CA3203410

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2193584
• ClinVar RCV Id: RCV002647189
• dbSNP Id: rs772595583
• ExAC: 5:13829635 T / A
• gnomAD v2: 5-13829635-T-A
• gnomAD v3: 5-13829526-T-A
• gnomAD v4: 5-13829526-T-A
• MyVariant Identifiers: chr5:g.13829635T>A (hg19) ; chr5:g.13829526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829526T>A , CM000667.2:g.13829526T>A	GRCh38
NC_000005.9:g.13829635T>A , CM000667.1:g.13829635T>A	GRCh37
NC_000005.8:g.13882635T>A	NCBI36
NG_013081.1:g.119955A>T
NG_013081.2:g.119955A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1359A>T
ENST00000265104.5:c.6428A>T MANE Select	ENSP00000265104.4:p.Glu2143Val
ENST00000681290.1:c.6383A>T	ENSP00000505288.1:p.Glu2128Val
ENST00000265104.4:c.6428A>T	ENSP00000265104.4:p.Glu2143Val
NM_001369.2:c.6428A>T	NP_001360.1:p.Glu2143Val
XM_005248262.2:c.6383A>T	XP_005248319.1:p.Glu2128Val
XM_011513990.1:c.6428A>T	XP_011512292.1:p.Glu2143Val
XR_925598.1:n.6635A>T
XM_005248262.3:c.6536A>T	XP_005248319.2:p.Glu2179Val
XM_017009177.1:c.6536A>T	XP_016864666.1:p.Glu2179Val
XM_017009178.1:c.5441A>T	XP_016864667.1:p.Glu1814Val
XM_017009179.2:c.5441A>T	XP_016864668.1:p.Glu1814Val
XM_017009180.1:c.6536A>T	XP_016864669.1:p.Glu2179Val
XM_017009181.1:c.6536A>T	XP_016864670.1:p.Glu2179Val
XM_017009182.1:c.6536A>T	XP_016864671.1:p.Glu2179Val
XM_017009183.1:c.6536A>T	XP_016864672.1:p.Glu2179Val
XM_017009184.1:c.6536A>T	XP_016864673.1:p.Glu2179Val
XM_017009185.1:c.1625A>T	XP_016864674.1:p.Glu542Val
XM_017009186.1:c.1178A>T	XP_016864675.1:p.Glu393Val
XM_017009187.1:c.6536A>T	XP_016864676.1:p.Glu2179Val
XM_017009188.1:c.515A>T	XP_016864677.1:p.Glu172Val
XM_024454388.1:c.5441A>T	XP_024310156.1:p.Glu1814Val
XM_024454389.1:c.5030A>T	XP_024310157.1:p.Glu1677Val
XR_001742034.1:n.6553A>T
XR_001742035.1:n.6553A>T
NM_001369.3:c.6428A>T MANE Select	NP_001360.1:p.Glu2143Val