Canonical Allele Identifier: CA359221009

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13793548-A-T
• MyVariant Identifiers: chr5:g.13793657A>T (hg19) ; chr5:g.13793548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793548A>T , CM000667.2:g.13793548A>T	GRCh38
NC_000005.9:g.13793657A>T , CM000667.1:g.13793657A>T	GRCh37
NC_000005.8:g.13846657A>T	NCBI36
NG_013081.1:g.155933T>A
NG_013081.2:g.155933T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8191T>A MANE Select	ENSP00000265104.4:p.Leu2731Met
ENST00000681290.1:c.8146T>A	ENSP00000505288.1:p.Leu2716Met
ENST00000265104.4:c.8191T>A	ENSP00000265104.4:p.Leu2731Met
NM_001369.2:c.8191T>A	NP_001360.1:p.Leu2731Met
XM_005248262.2:c.8146T>A	XP_005248319.1:p.Leu2716Met
XM_011513990.1:c.8191T>A	XP_011512292.1:p.Leu2731Met
XR_925598.1:n.8398T>A
XM_005248262.3:c.8299T>A	XP_005248319.2:p.Leu2767Met
XM_017009177.1:c.8299T>A	XP_016864666.1:p.Leu2767Met
XM_017009178.1:c.7204T>A	XP_016864667.1:p.Leu2402Met
XM_017009179.2:c.7204T>A	XP_016864668.1:p.Leu2402Met
XM_017009180.1:c.8299T>A	XP_016864669.1:p.Leu2767Met
XM_017009181.1:c.8299T>A	XP_016864670.1:p.Leu2767Met
XM_017009182.1:c.8299T>A	XP_016864671.1:p.Leu2767Met
XM_017009183.1:c.8299T>A	XP_016864672.1:p.Leu2767Met
XM_017009184.1:c.8299T>A	XP_016864673.1:p.Leu2767Met
XM_017009185.1:c.3388T>A	XP_016864674.1:p.Leu1130Met
XM_017009186.1:c.2941T>A	XP_016864675.1:p.Leu981Met
XM_017009188.1:c.2278T>A	XP_016864677.1:p.Leu760Met
XM_024454388.1:c.7204T>A	XP_024310156.1:p.Leu2402Met
XM_024454389.1:c.6793T>A	XP_024310157.1:p.Leu2265Met
XR_001742034.1:n.8316T>A
XR_001742035.1:n.8316T>A
NM_001369.3:c.8191T>A MANE Select	NP_001360.1:p.Leu2731Met