Canonical Allele Identifier: CA3203942

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351124
• ClinVar RCV Id: RCV000292300 ; RCV001095082 ; RCV003437118 ; RCV003950244
• dbSNP Id: rs182677317
• ExAC: 5:13864501 T / G
• gnomAD v2: 5-13864501-T-G
• gnomAD v3: 5-13864392-T-G
• gnomAD v4: 5-13864392-T-G
• MyVariant Identifiers: chr5:g.13864501T>G (hg19) ; chr5:g.13864392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13864392T>G , CM000667.2:g.13864392T>G	GRCh38
NC_000005.9:g.13864501T>G , CM000667.1:g.13864501T>G	GRCh37
NC_000005.8:g.13917501T>G	NCBI36
NG_013081.1:g.85089A>C
NG_013081.2:g.85089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4596+5A>C MANE Select	ENSP00000265104.4:n.4596+5A>C
ENST00000681290.1:c.4551+5A>C	ENSP00000505288.1:n.4551+5A>C
ENST00000265104.4:c.4596+5A>C	ENSP00000265104.4:n.4596+5A>C
NM_001369.2:c.4596+5A>C	NP_001360.1:n.4596+5A>C
XM_005248262.2:c.4551+5A>C	XP_005248319.1:n.4551+5A>C
XM_011513990.1:c.4596+5A>C	XP_011512292.1:n.4596+5A>C
XR_925598.1:n.4803+5A>C
XM_005248262.3:c.4704+5A>C	XP_005248319.2:n.4704+5A>C
XM_017009177.1:c.4704+5A>C	XP_016864666.1:n.4704+5A>C
XM_017009178.1:c.3609+5A>C	XP_016864667.1:n.3609+5A>C
XM_017009179.2:c.3609+5A>C	XP_016864668.1:n.3609+5A>C
XM_017009180.1:c.4704+5A>C	XP_016864669.1:n.4704+5A>C
XM_017009181.1:c.4704+5A>C	XP_016864670.1:n.4704+5A>C
XM_017009182.1:c.4704+5A>C	XP_016864671.1:n.4704+5A>C
XM_017009183.1:c.4704+5A>C	XP_016864672.1:n.4704+5A>C
XM_017009184.1:c.4704+5A>C	XP_016864673.1:n.4704+5A>C
XM_017009187.1:c.4704+5A>C	XP_016864676.1:n.4704+5A>C
XM_024454388.1:c.3609+5A>C	XP_024310156.1:n.3609+5A>C
XM_024454389.1:c.3198+5A>C	XP_024310157.1:n.3198+5A>C
XR_001742034.1:n.4721+5A>C
XR_001742035.1:n.4721+5A>C
NM_001369.3:c.4596+5A>C MANE Select	NP_001360.1:n.4596+5A>C