Canonical Allele Identifier: CA3203461

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351078
• ClinVar RCV Id: RCV000360369 ; RCV001094989
• dbSNP Id: rs141196027
• ExAC: 5:13830154 A / G
• gnomAD v2: 5-13830154-A-G
• gnomAD v3: 5-13830045-A-G
• gnomAD v4: 5-13830045-A-G
• MyVariant Identifiers: chr5:g.13830154A>G (hg19) ; chr5:g.13830045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830045A>G , CM000667.2:g.13830045A>G	GRCh38
NC_000005.9:g.13830154A>G , CM000667.1:g.13830154A>G	GRCh37
NC_000005.8:g.13883154A>G	NCBI36
NG_013081.1:g.119436T>C
NG_013081.2:g.119436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1161T>C
ENST00000265104.5:c.6230T>C MANE Select	ENSP00000265104.4:p.Phe2077Ser
ENST00000681290.1:c.6185T>C	ENSP00000505288.1:p.Phe2062Ser
ENST00000265104.4:c.6230T>C	ENSP00000265104.4:p.Phe2077Ser
NM_001369.2:c.6230T>C	NP_001360.1:p.Phe2077Ser
XM_005248262.2:c.6185T>C	XP_005248319.1:p.Phe2062Ser
XM_011513990.1:c.6230T>C	XP_011512292.1:p.Phe2077Ser
XR_925598.1:n.6437T>C
XM_005248262.3:c.6338T>C	XP_005248319.2:p.Phe2113Ser
XM_017009177.1:c.6338T>C	XP_016864666.1:p.Phe2113Ser
XM_017009178.1:c.5243T>C	XP_016864667.1:p.Phe1748Ser
XM_017009179.2:c.5243T>C	XP_016864668.1:p.Phe1748Ser
XM_017009180.1:c.6338T>C	XP_016864669.1:p.Phe2113Ser
XM_017009181.1:c.6338T>C	XP_016864670.1:p.Phe2113Ser
XM_017009182.1:c.6338T>C	XP_016864671.1:p.Phe2113Ser
XM_017009183.1:c.6338T>C	XP_016864672.1:p.Phe2113Ser
XM_017009184.1:c.6338T>C	XP_016864673.1:p.Phe2113Ser
XM_017009185.1:c.1427T>C	XP_016864674.1:p.Phe476Ser
XM_017009186.1:c.980T>C	XP_016864675.1:p.Phe327Ser
XM_017009187.1:c.6338T>C	XP_016864676.1:p.Phe2113Ser
XM_017009188.1:c.317T>C	XP_016864677.1:p.Phe106Ser
XM_024454388.1:c.5243T>C	XP_024310156.1:p.Phe1748Ser
XM_024454389.1:c.4832T>C	XP_024310157.1:p.Phe1611Ser
XR_001742034.1:n.6355T>C
XR_001742035.1:n.6355T>C
NM_001369.3:c.6230T>C MANE Select	NP_001360.1:p.Phe2077Ser