Canonical Allele Identifier: CA202948

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 197541
• ClinVar RCV Id: RCV000178597 ; RCV000228235 ; RCV000674418
• dbSNP Id: rs149460805
• ExAC: 5:13809143 A / G
• gnomAD v2: 5-13809143-A-G
• gnomAD v3: 5-13809034-A-G
• gnomAD v4: 5-13809034-A-G
• MyVariant Identifiers: chr5:g.13809143A>G (hg19) ; chr5:g.13809034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13809034A>G , CM000667.2:g.13809034A>G	GRCh38
NC_000005.9:g.13809143A>G , CM000667.1:g.13809143A>G	GRCh37
NC_000005.8:g.13862143A>G	NCBI36
NG_013081.1:g.140447T>C
NG_013081.2:g.140447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.7752+10T>C MANE Select	ENSP00000265104.4:n.7752+10T>C
ENST00000681290.1:c.7707+10T>C	ENSP00000505288.1:n.7707+10T>C
ENST00000265104.4:c.7752+10T>C	ENSP00000265104.4:n.7752+10T>C
ENST00000512443.1:n.608+10T>C
NM_001369.2:c.7752+10T>C	NP_001360.1:n.7752+10T>C
XM_005248262.2:c.7707+10T>C	XP_005248319.1:n.7707+10T>C
XM_011513990.1:c.7752+10T>C	XP_011512292.1:n.7752+10T>C
XR_925598.1:n.7959+10T>C
XM_005248262.3:c.7860+10T>C	XP_005248319.2:n.7860+10T>C
XM_017009177.1:c.7860+10T>C	XP_016864666.1:n.7860+10T>C
XM_017009178.1:c.6765+10T>C	XP_016864667.1:n.6765+10T>C
XM_017009179.2:c.6765+10T>C	XP_016864668.1:n.6765+10T>C
XM_017009180.1:c.7860+10T>C	XP_016864669.1:n.7860+10T>C
XM_017009181.1:c.7860+10T>C	XP_016864670.1:n.7860+10T>C
XM_017009182.1:c.7860+10T>C	XP_016864671.1:n.7860+10T>C
XM_017009183.1:c.7860+10T>C	XP_016864672.1:n.7860+10T>C
XM_017009184.1:c.7860+10T>C	XP_016864673.1:n.7860+10T>C
XM_017009185.1:c.2949+10T>C	XP_016864674.1:n.2949+10T>C
XM_017009186.1:c.2502+10T>C	XP_016864675.1:n.2502+10T>C
XM_017009187.1:c.7860+10T>C	XP_016864676.1:n.7860+10T>C
XM_017009188.1:c.1839+10T>C	XP_016864677.1:n.1839+10T>C
XM_024454388.1:c.6765+10T>C	XP_024310156.1:n.6765+10T>C
XM_024454389.1:c.6354+10T>C	XP_024310157.1:n.6354+10T>C
XR_001742034.1:n.7877+10T>C
XR_001742035.1:n.7877+10T>C
NM_001369.3:c.7752+10T>C MANE Select	NP_001360.1:n.7752+10T>C