Canonical Allele Identifier: CA359219224
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13792097-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13792097A>G , CM000667.2:g.13792097A>G GRCh38
NC_000005.9:g.13792206A>G , CM000667.1:g.13792206A>G GRCh37
NC_000005.8:g.13845206A>G NCBI36
NG_013081.1:g.157384T>C
NG_013081.2:g.157384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8345T>C MANE Select ENSP00000265104.4:p.Leu2782Pro
ENST00000681290.1:c.8300T>C ENSP00000505288.1:p.Leu2767Pro
ENST00000265104.4:c.8345T>C ENSP00000265104.4:p.Leu2782Pro
NM_001369.2:c.8345T>C NP_001360.1:p.Leu2782Pro
XM_005248262.2:c.8300T>C XP_005248319.1:p.Leu2767Pro
XM_011513990.1:c.8345T>C XP_011512292.1:p.Leu2782Pro
XR_925598.1:n.8552T>C
XM_005248262.3:c.8453T>C XP_005248319.2:p.Leu2818Pro
XM_017009177.1:c.8453T>C XP_016864666.1:p.Leu2818Pro
XM_017009178.1:c.7358T>C XP_016864667.1:p.Leu2453Pro
XM_017009179.2:c.7358T>C XP_016864668.1:p.Leu2453Pro
XM_017009180.1:c.8453T>C XP_016864669.1:p.Leu2818Pro
XM_017009181.1:c.8453T>C XP_016864670.1:p.Leu2818Pro
XM_017009182.1:c.8453T>C XP_016864671.1:p.Leu2818Pro
XM_017009183.1:c.8453T>C XP_016864672.1:p.Leu2818Pro
XM_017009184.1:c.8453T>C XP_016864673.1:p.Leu2818Pro
XM_017009185.1:c.3542T>C XP_016864674.1:p.Leu1181Pro
XM_017009186.1:c.3095T>C XP_016864675.1:p.Leu1032Pro
XM_017009188.1:c.2432T>C XP_016864677.1:p.Leu811Pro
XM_024454388.1:c.7358T>C XP_024310156.1:p.Leu2453Pro
XM_024454389.1:c.6947T>C XP_024310157.1:p.Leu2316Pro
XR_001742034.1:n.8470T>C
XR_001742035.1:n.8470T>C
NM_001369.3:c.8345T>C MANE Select NP_001360.1:p.Leu2782Pro