Canonical Allele Identifier: CA239195

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 188080
• ClinVar RCV Id: RCV000219496 ; RCV000724138 ; RCV000665936 ; RCV001083198
• dbSNP Id: rs140782270
• ExAC: 5:13914743 A / T
• gnomAD v2: 5-13914743-A-T
• gnomAD v3: 5-13914634-A-T
• gnomAD v4: 5-13914634-A-T
• MyVariant Identifiers: chr5:g.13914743A>T (hg19) ; chr5:g.13914634A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13914634A>T , CM000667.2:g.13914634A>T	GRCh38
NC_000005.9:g.13914743A>T , CM000667.1:g.13914743A>T	GRCh37
NC_000005.8:g.13967743A>T	NCBI36
NG_013081.1:g.34847T>A
NG_013081.2:g.34847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1262T>A
ENST00000682376.1:n.4874T>A
ENST00000683011.1:n.1145T>A
ENST00000683967.1:n.3010T>A
ENST00000684013.1:n.1305T>A
ENST00000684099.1:n.1301T>A
ENST00000265104.5:c.1206T>A MANE Select	ENSP00000265104.4:p.Asn402Lys
ENST00000680213.1:c.966T>A	ENSP00000506622.1:p.Asn322Lys
ENST00000681290.1:c.1161T>A	ENSP00000505288.1:p.Asn387Lys
ENST00000265104.4:c.1206T>A	ENSP00000265104.4:p.Asn402Lys
ENST00000508040.1:n.1614T>A
NM_001369.2:c.1206T>A	NP_001360.1:p.Asn402Lys
XM_005248262.2:c.1161T>A	XP_005248319.1:p.Asn387Lys
XM_011513990.1:c.1206T>A	XP_011512292.1:p.Asn402Lys
XR_925598.1:n.1413T>A
XM_005248262.3:c.1314T>A	XP_005248319.2:p.Asn438Lys
XM_017009177.1:c.1314T>A	XP_016864666.1:p.Asn438Lys
XM_017009178.1:c.219T>A	XP_016864667.1:p.Asn73Lys
XM_017009179.2:c.219T>A	XP_016864668.1:p.Asn73Lys
XM_017009180.1:c.1314T>A	XP_016864669.1:p.Asn438Lys
XM_017009181.1:c.1314T>A	XP_016864670.1:p.Asn438Lys
XM_017009182.1:c.1314T>A	XP_016864671.1:p.Asn438Lys
XM_017009183.1:c.1314T>A	XP_016864672.1:p.Asn438Lys
XM_017009184.1:c.1314T>A	XP_016864673.1:p.Asn438Lys
XM_017009187.1:c.1314T>A	XP_016864676.1:p.Asn438Lys
XM_024454388.1:c.219T>A	XP_024310156.1:p.Asn73Lys
XM_024454389.1:c.-754T>A	XP_024310157.1:n.-754T>A
XR_001742034.1:n.1331T>A
XR_001742035.1:n.1331T>A
NM_001369.3:c.1206T>A MANE Select	NP_001360.1:p.Asn402Lys