Canonical Allele Identifier: CA3201602
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 238960
dbSNP Id: rs148123430

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13717497C>T , CM000667.2:g.13717497C>T GRCh38
NC_000005.9:g.13717606C>T , CM000667.1:g.13717606C>T GRCh37
NC_000005.8:g.13770606C>T NCBI36
NG_013081.1:g.231984G>A
NG_013081.2:g.231984G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.12523G>A MANE Select ENSP00000265104.4:p.Val4175Met
ENST00000681290.1:c.12478G>A ENSP00000505288.1:p.Val4160Met
ENST00000265104.4:c.12523G>A ENSP00000265104.4:p.Val4175Met
NM_001369.2:c.12523G>A NP_001360.1:p.Val4175Met
XM_005248262.2:c.12478G>A XP_005248319.1:p.Val4160Met
XM_005248262.3:c.12631G>A XP_005248319.2:p.Val4211Met
XM_017009177.1:c.12631G>A XP_016864666.1:p.Val4211Met
XM_017009178.1:c.11536G>A XP_016864667.1:p.Val3846Met
XM_017009179.2:c.11536G>A XP_016864668.1:p.Val3846Met
XM_017009180.1:c.12631G>A XP_016864669.1:p.Val4211Met
XM_017009185.1:c.7720G>A XP_016864674.1:p.Val2574Met
XM_017009186.1:c.7273G>A XP_016864675.1:p.Val2425Met
XM_017009188.1:c.6610G>A XP_016864677.1:p.Val2204Met
XM_024454388.1:c.11536G>A XP_024310156.1:p.Val3846Met
XM_024454389.1:c.11125G>A XP_024310157.1:p.Val3709Met
NM_001369.3:c.12523G>A MANE Select NP_001360.1:p.Val4175Met