Canonical Allele Identifier: CA359223215
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735225C>G , CM000667.2:g.13735225C>G GRCh38
NC_000005.9:g.13735334C>G , CM000667.1:g.13735334C>G GRCh37
NC_000005.8:g.13788334C>G NCBI36
NG_013081.1:g.214256G>C
NG_013081.2:g.214256G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11667G>C MANE Select ENSP00000265104.4:p.Glu3889Asp
ENST00000681290.1:c.11622G>C ENSP00000505288.1:p.Glu3874Asp
ENST00000265104.4:c.11667G>C ENSP00000265104.4:p.Glu3889Asp
NM_001369.2:c.11667G>C NP_001360.1:p.Glu3889Asp
XM_005248262.2:c.11622G>C XP_005248319.1:p.Glu3874Asp
XM_005248262.3:c.11775G>C XP_005248319.2:p.Glu3925Asp
XM_017009177.1:c.11775G>C XP_016864666.1:p.Glu3925Asp
XM_017009178.1:c.10680G>C XP_016864667.1:p.Glu3560Asp
XM_017009179.2:c.10680G>C XP_016864668.1:p.Glu3560Asp
XM_017009180.1:c.11775G>C XP_016864669.1:p.Glu3925Asp
XM_017009181.1:c.11775G>C XP_016864670.1:p.Glu3925Asp
XM_017009185.1:c.6864G>C XP_016864674.1:p.Glu2288Asp
XM_017009186.1:c.6417G>C XP_016864675.1:p.Glu2139Asp
XM_017009188.1:c.5754G>C XP_016864677.1:p.Glu1918Asp
XM_024454388.1:c.10680G>C XP_024310156.1:p.Glu3560Asp
XM_024454389.1:c.10269G>C XP_024310157.1:p.Glu3423Asp
NM_001369.3:c.11667G>C MANE Select NP_001360.1:p.Glu3889Asp