Canonical Allele Identifier: CA359211149

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841747-T-C
• MyVariant Identifiers: chr5:g.13841856T>C (hg19) ; chr5:g.13841747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841747T>C , CM000667.2:g.13841747T>C	GRCh38
NC_000005.9:g.13841856T>C , CM000667.1:g.13841856T>C	GRCh37
NC_000005.8:g.13894856T>C	NCBI36
NG_013081.1:g.107734A>G
NG_013081.2:g.107734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5429A>G MANE Select	ENSP00000265104.4:p.Asn1810Ser
ENST00000681290.1:c.5384A>G	ENSP00000505288.1:p.Asn1795Ser
ENST00000265104.4:c.5429A>G	ENSP00000265104.4:p.Asn1810Ser
NM_001369.2:c.5429A>G	NP_001360.1:p.Asn1810Ser
XM_005248262.2:c.5384A>G	XP_005248319.1:p.Asn1795Ser
XM_011513990.1:c.5429A>G	XP_011512292.1:p.Asn1810Ser
XR_925598.1:n.5636A>G
XM_005248262.3:c.5537A>G	XP_005248319.2:p.Asn1846Ser
XM_017009177.1:c.5537A>G	XP_016864666.1:p.Asn1846Ser
XM_017009178.1:c.4442A>G	XP_016864667.1:p.Asn1481Ser
XM_017009179.2:c.4442A>G	XP_016864668.1:p.Asn1481Ser
XM_017009180.1:c.5537A>G	XP_016864669.1:p.Asn1846Ser
XM_017009181.1:c.5537A>G	XP_016864670.1:p.Asn1846Ser
XM_017009182.1:c.5537A>G	XP_016864671.1:p.Asn1846Ser
XM_017009183.1:c.5537A>G	XP_016864672.1:p.Asn1846Ser
XM_017009184.1:c.5537A>G	XP_016864673.1:p.Asn1846Ser
XM_017009185.1:c.626A>G	XP_016864674.1:p.Asn209Ser
XM_017009186.1:c.179A>G	XP_016864675.1:p.Asn60Ser
XM_017009187.1:c.5537A>G	XP_016864676.1:p.Asn1846Ser
XM_024454388.1:c.4442A>G	XP_024310156.1:p.Asn1481Ser
XM_024454389.1:c.4031A>G	XP_024310157.1:p.Asn1344Ser
XR_001742034.1:n.5554A>G
XR_001742035.1:n.5554A>G
NM_001369.3:c.5429A>G MANE Select	NP_001360.1:p.Asn1810Ser