Canonical Allele Identifier: CA359211486

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2694897
• ClinVar RCV Id: RCV003536063
• MyVariant Identifiers: chr5:g.13841886A>T (hg19) ; chr5:g.13841777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841777A>T , CM000667.2:g.13841777A>T	GRCh38
NC_000005.9:g.13841886A>T , CM000667.1:g.13841886A>T	GRCh37
NC_000005.8:g.13894886A>T	NCBI36
NG_013081.1:g.107704T>A
NG_013081.2:g.107704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5399T>A MANE Select	ENSP00000265104.4:p.Leu1800Ter
ENST00000681290.1:c.5354T>A	ENSP00000505288.1:p.Leu1785Ter
ENST00000265104.4:c.5399T>A	ENSP00000265104.4:p.Leu1800Ter
NM_001369.2:c.5399T>A	NP_001360.1:p.Leu1800Ter
XM_005248262.2:c.5354T>A	XP_005248319.1:p.Leu1785Ter
XM_011513990.1:c.5399T>A	XP_011512292.1:p.Leu1800Ter
XR_925598.1:n.5606T>A
XM_005248262.3:c.5507T>A	XP_005248319.2:p.Leu1836Ter
XM_017009177.1:c.5507T>A	XP_016864666.1:p.Leu1836Ter
XM_017009178.1:c.4412T>A	XP_016864667.1:p.Leu1471Ter
XM_017009179.2:c.4412T>A	XP_016864668.1:p.Leu1471Ter
XM_017009180.1:c.5507T>A	XP_016864669.1:p.Leu1836Ter
XM_017009181.1:c.5507T>A	XP_016864670.1:p.Leu1836Ter
XM_017009182.1:c.5507T>A	XP_016864671.1:p.Leu1836Ter
XM_017009183.1:c.5507T>A	XP_016864672.1:p.Leu1836Ter
XM_017009184.1:c.5507T>A	XP_016864673.1:p.Leu1836Ter
XM_017009185.1:c.596T>A	XP_016864674.1:p.Leu199Ter
XM_017009186.1:c.149T>A	XP_016864675.1:p.Leu50Ter
XM_017009187.1:c.5507T>A	XP_016864676.1:p.Leu1836Ter
XM_024454388.1:c.4412T>A	XP_024310156.1:p.Leu1471Ter
XM_024454389.1:c.4001T>A	XP_024310157.1:p.Leu1334Ter
XR_001742034.1:n.5524T>A
XR_001742035.1:n.5524T>A
NM_001369.3:c.5399T>A MANE Select	NP_001360.1:p.Leu1800Ter