Canonical Allele Identifier: CA350879

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 219733
• ClinVar RCV Id: RCV000206891 ; RCV000667189 ; RCV003955226
• dbSNP Id: rs144575803
• ExAC: 5:13914751 C / T
• gnomAD v2: 5-13914751-C-T
• gnomAD v3: 5-13914642-C-T
• gnomAD v4: 5-13914642-C-T
• MyVariant Identifiers: chr5:g.13914751C>T (hg19) ; chr5:g.13914642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13914642C>T , CM000667.2:g.13914642C>T	GRCh38
NC_000005.9:g.13914751C>T , CM000667.1:g.13914751C>T	GRCh37
NC_000005.8:g.13967751C>T	NCBI36
NG_013081.1:g.34839G>A
NG_013081.2:g.34839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1254G>A
ENST00000682376.1:n.4866G>A
ENST00000683011.1:n.1137G>A
ENST00000683967.1:n.3002G>A
ENST00000684013.1:n.1297G>A
ENST00000684099.1:n.1293G>A
ENST00000265104.5:c.1198G>A MANE Select	ENSP00000265104.4:p.Val400Met
ENST00000680213.1:c.958G>A	ENSP00000506622.1:p.Val320Met
ENST00000681290.1:c.1153G>A	ENSP00000505288.1:p.Val385Met
ENST00000265104.4:c.1198G>A	ENSP00000265104.4:p.Val400Met
ENST00000508040.1:n.1606G>A
NM_001369.2:c.1198G>A	NP_001360.1:p.Val400Met
XM_005248262.2:c.1153G>A	XP_005248319.1:p.Val385Met
XM_011513990.1:c.1198G>A	XP_011512292.1:p.Val400Met
XR_925598.1:n.1405G>A
XM_005248262.3:c.1306G>A	XP_005248319.2:p.Val436Met
XM_017009177.1:c.1306G>A	XP_016864666.1:p.Val436Met
XM_017009178.1:c.211G>A	XP_016864667.1:p.Val71Met
XM_017009179.2:c.211G>A	XP_016864668.1:p.Val71Met
XM_017009180.1:c.1306G>A	XP_016864669.1:p.Val436Met
XM_017009181.1:c.1306G>A	XP_016864670.1:p.Val436Met
XM_017009182.1:c.1306G>A	XP_016864671.1:p.Val436Met
XM_017009183.1:c.1306G>A	XP_016864672.1:p.Val436Met
XM_017009184.1:c.1306G>A	XP_016864673.1:p.Val436Met
XM_017009187.1:c.1306G>A	XP_016864676.1:p.Val436Met
XM_024454388.1:c.211G>A	XP_024310156.1:p.Val71Met
XM_024454389.1:c.-762G>A	XP_024310157.1:n.-762G>A
XR_001742034.1:n.1323G>A
XR_001742035.1:n.1323G>A
NM_001369.3:c.1198G>A MANE Select	NP_001360.1:p.Val400Met