Canonical Allele Identifier: CA3203769
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 369664
dbSNP Id: rs138890576
gnomAD v2: 5-13845040-A-G
gnomAD v3: 5-13844931-A-G
gnomAD v4: 5-13844931-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13844931A>G , CM000667.2:g.13844931A>G GRCh38
NC_000005.9:g.13845040A>G , CM000667.1:g.13845040A>G GRCh37
NC_000005.8:g.13898040A>G NCBI36
NG_013081.1:g.104550T>C
NG_013081.2:g.104550T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5177T>C MANE Select ENSP00000265104.4:p.Leu1726Pro
ENST00000681290.1:c.5132T>C ENSP00000505288.1:p.Leu1711Pro
ENST00000265104.4:c.5177T>C ENSP00000265104.4:p.Leu1726Pro
NM_001369.2:c.5177T>C NP_001360.1:p.Leu1726Pro
XM_005248262.2:c.5132T>C XP_005248319.1:p.Leu1711Pro
XM_011513990.1:c.5177T>C XP_011512292.1:p.Leu1726Pro
XR_925598.1:n.5384T>C
XM_005248262.3:c.5285T>C XP_005248319.2:p.Leu1762Pro
XM_017009177.1:c.5285T>C XP_016864666.1:p.Leu1762Pro
XM_017009178.1:c.4190T>C XP_016864667.1:p.Leu1397Pro
XM_017009179.2:c.4190T>C XP_016864668.1:p.Leu1397Pro
XM_017009180.1:c.5285T>C XP_016864669.1:p.Leu1762Pro
XM_017009181.1:c.5285T>C XP_016864670.1:p.Leu1762Pro
XM_017009182.1:c.5285T>C XP_016864671.1:p.Leu1762Pro
XM_017009183.1:c.5285T>C XP_016864672.1:p.Leu1762Pro
XM_017009184.1:c.5285T>C XP_016864673.1:p.Leu1762Pro
XM_017009185.1:c.374T>C XP_016864674.1:p.Leu125Pro
XM_017009186.1:c.22-3027T>C XP_016864675.1:n.22-3027T>C
XM_017009187.1:c.5285T>C XP_016864676.1:p.Leu1762Pro
XM_024454388.1:c.4190T>C XP_024310156.1:p.Leu1397Pro
XM_024454389.1:c.3779T>C XP_024310157.1:p.Leu1260Pro
XR_001742034.1:n.5302T>C
XR_001742035.1:n.5302T>C
NM_001369.3:c.5177T>C MANE Select NP_001360.1:p.Leu1726Pro