Canonical Allele Identifier: CA359207311
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13717412G>T , CM000667.2:g.13717412G>T GRCh38
NC_000005.9:g.13717521G>T , CM000667.1:g.13717521G>T GRCh37
NC_000005.8:g.13770521G>T NCBI36
NG_013081.1:g.232069C>A
NG_013081.2:g.232069C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.12608C>A MANE Select ENSP00000265104.4:p.Ala4203Asp
ENST00000681290.1:c.12563C>A ENSP00000505288.1:p.Ala4188Asp
ENST00000265104.4:c.12608C>A ENSP00000265104.4:p.Ala4203Asp
NM_001369.2:c.12608C>A NP_001360.1:p.Ala4203Asp
XM_005248262.2:c.12563C>A XP_005248319.1:p.Ala4188Asp
XM_005248262.3:c.12716C>A XP_005248319.2:p.Ala4239Asp
XM_017009177.1:c.12716C>A XP_016864666.1:p.Ala4239Asp
XM_017009178.1:c.11621C>A XP_016864667.1:p.Ala3874Asp
XM_017009179.2:c.11621C>A XP_016864668.1:p.Ala3874Asp
XM_017009180.1:c.12716C>A XP_016864669.1:p.Ala4239Asp
XM_017009185.1:c.7805C>A XP_016864674.1:p.Ala2602Asp
XM_017009186.1:c.7358C>A XP_016864675.1:p.Ala2453Asp
XM_017009188.1:c.6695C>A XP_016864677.1:p.Ala2232Asp
XM_024454388.1:c.11621C>A XP_024310156.1:p.Ala3874Asp
XM_024454389.1:c.11210C>A XP_024310157.1:p.Ala3737Asp
NM_001369.3:c.12608C>A MANE Select NP_001360.1:p.Ala4203Asp