Canonical Allele Identifier: CA359202544

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 488401
• ClinVar RCV Id: RCV000578182 ; RCV002466541 ; RCV003652053
• dbSNP Id: rs773208371
• MyVariant Identifiers: chr5:g.13830767G>T (hg19) ; chr5:g.13830658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830658G>T , CM000667.2:g.13830658G>T	GRCh38
NC_000005.9:g.13830767G>T , CM000667.1:g.13830767G>T	GRCh37
NC_000005.8:g.13883767G>T	NCBI36
NG_013081.1:g.118823C>A
NG_013081.2:g.118823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.931C>A
ENST00000265104.5:c.6000C>A MANE Select	ENSP00000265104.4:p.Tyr2000Ter
ENST00000681290.1:c.5955C>A	ENSP00000505288.1:p.Tyr1985Ter
ENST00000265104.4:c.6000C>A	ENSP00000265104.4:p.Tyr2000Ter
NM_001369.2:c.6000C>A	NP_001360.1:p.Tyr2000Ter
XM_005248262.2:c.5955C>A	XP_005248319.1:p.Tyr1985Ter
XM_011513990.1:c.6000C>A	XP_011512292.1:p.Tyr2000Ter
XR_925598.1:n.6207C>A
XM_005248262.3:c.6108C>A	XP_005248319.2:p.Tyr2036Ter
XM_017009177.1:c.6108C>A	XP_016864666.1:p.Tyr2036Ter
XM_017009178.1:c.5013C>A	XP_016864667.1:p.Tyr1671Ter
XM_017009179.2:c.5013C>A	XP_016864668.1:p.Tyr1671Ter
XM_017009180.1:c.6108C>A	XP_016864669.1:p.Tyr2036Ter
XM_017009181.1:c.6108C>A	XP_016864670.1:p.Tyr2036Ter
XM_017009182.1:c.6108C>A	XP_016864671.1:p.Tyr2036Ter
XM_017009183.1:c.6108C>A	XP_016864672.1:p.Tyr2036Ter
XM_017009184.1:c.6108C>A	XP_016864673.1:p.Tyr2036Ter
XM_017009185.1:c.1197C>A	XP_016864674.1:p.Tyr399Ter
XM_017009186.1:c.750C>A	XP_016864675.1:p.Tyr250Ter
XM_017009187.1:c.6108C>A	XP_016864676.1:p.Tyr2036Ter
XM_017009188.1:c.87C>A	XP_016864677.1:p.Tyr29Ter
XM_024454388.1:c.5013C>A	XP_024310156.1:p.Tyr1671Ter
XM_024454389.1:c.4602C>A	XP_024310157.1:p.Tyr1534Ter
XR_001742034.1:n.6125C>A
XR_001742035.1:n.6125C>A
NM_001369.3:c.6000C>A MANE Select	NP_001360.1:p.Tyr2000Ter