Canonical Allele Identifier: CA3204327

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2489968
• ClinVar RCV Id: RCV004279968
• dbSNP Id: rs199885833
• ExAC: 5:13876926 T / C
• gnomAD v2: 5-13876926-T-C
• gnomAD v3: 5-13876817-T-C
• gnomAD v4: 5-13876817-T-C
• MyVariant Identifiers: chr5:g.13876926T>C (hg19) ; chr5:g.13876817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876817T>C , CM000667.2:g.13876817T>C	GRCh38
NC_000005.9:g.13876926T>C , CM000667.1:g.13876926T>C	GRCh37
NC_000005.8:g.13929926T>C	NCBI36
NG_013081.1:g.72664A>G
NG_013081.2:g.72664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3263A>G MANE Select	ENSP00000265104.4:p.Asp1088Gly
ENST00000681290.1:c.3218A>G	ENSP00000505288.1:p.Asp1073Gly
ENST00000265104.4:c.3263A>G	ENSP00000265104.4:p.Asp1088Gly
NM_001369.2:c.3263A>G	NP_001360.1:p.Asp1088Gly
XM_005248262.2:c.3218A>G	XP_005248319.1:p.Asp1073Gly
XM_011513990.1:c.3263A>G	XP_011512292.1:p.Asp1088Gly
XR_925598.1:n.3470A>G
XM_005248262.3:c.3371A>G	XP_005248319.2:p.Asp1124Gly
XM_017009177.1:c.3371A>G	XP_016864666.1:p.Asp1124Gly
XM_017009178.1:c.2276A>G	XP_016864667.1:p.Asp759Gly
XM_017009179.2:c.2276A>G	XP_016864668.1:p.Asp759Gly
XM_017009180.1:c.3371A>G	XP_016864669.1:p.Asp1124Gly
XM_017009181.1:c.3371A>G	XP_016864670.1:p.Asp1124Gly
XM_017009182.1:c.3371A>G	XP_016864671.1:p.Asp1124Gly
XM_017009183.1:c.3371A>G	XP_016864672.1:p.Asp1124Gly
XM_017009184.1:c.3371A>G	XP_016864673.1:p.Asp1124Gly
XM_017009187.1:c.3371A>G	XP_016864676.1:p.Asp1124Gly
XM_024454388.1:c.2276A>G	XP_024310156.1:p.Asp759Gly
XM_024454389.1:c.1865A>G	XP_024310157.1:p.Asp622Gly
XR_001742034.1:n.3388A>G
XR_001742035.1:n.3388A>G
NM_001369.3:c.3263A>G MANE Select	NP_001360.1:p.Asp1088Gly