Canonical Allele Identifier: CA3203698

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1125885
• ClinVar RCV Id: RCV001457734
• dbSNP Id: rs751794427
• ExAC: 5:13841962 A / G
• gnomAD v2: 5-13841962-A-G
• gnomAD v3: 5-13841853-A-G
• gnomAD v4: 5-13841853-A-G
• MyVariant Identifiers: chr5:g.13841962A>G (hg19) ; chr5:g.13841853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841853A>G , CM000667.2:g.13841853A>G	GRCh38
NC_000005.9:g.13841962A>G , CM000667.1:g.13841962A>G	GRCh37
NC_000005.8:g.13894962A>G	NCBI36
NG_013081.1:g.107628T>C
NG_013081.2:g.107628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5323T>C MANE Select	ENSP00000265104.4:p.Leu1775=
ENST00000681290.1:c.5278T>C	ENSP00000505288.1:p.Leu1760=
ENST00000265104.4:c.5323T>C	ENSP00000265104.4:p.Leu1775=
NM_001369.2:c.5323T>C	NP_001360.1:p.Leu1775=
XM_005248262.2:c.5278T>C	XP_005248319.1:p.Leu1760=
XM_011513990.1:c.5323T>C	XP_011512292.1:p.Leu1775=
XR_925598.1:n.5530T>C
XM_005248262.3:c.5431T>C	XP_005248319.2:p.Leu1811=
XM_017009177.1:c.5431T>C	XP_016864666.1:p.Leu1811=
XM_017009178.1:c.4336T>C	XP_016864667.1:p.Leu1446=
XM_017009179.2:c.4336T>C	XP_016864668.1:p.Leu1446=
XM_017009180.1:c.5431T>C	XP_016864669.1:p.Leu1811=
XM_017009181.1:c.5431T>C	XP_016864670.1:p.Leu1811=
XM_017009182.1:c.5431T>C	XP_016864671.1:p.Leu1811=
XM_017009183.1:c.5431T>C	XP_016864672.1:p.Leu1811=
XM_017009184.1:c.5431T>C	XP_016864673.1:p.Leu1811=
XM_017009185.1:c.520T>C	XP_016864674.1:p.Leu174=
XM_017009186.1:c.73T>C	XP_016864675.1:p.Leu25=
XM_017009187.1:c.5431T>C	XP_016864676.1:p.Leu1811=
XM_024454388.1:c.4336T>C	XP_024310156.1:p.Leu1446=
XM_024454389.1:c.3925T>C	XP_024310157.1:p.Leu1309=
XR_001742034.1:n.5448T>C
XR_001742035.1:n.5448T>C
NM_001369.3:c.5323T>C MANE Select	NP_001360.1:p.Leu1775=