Canonical Allele Identifier: CA2673266093
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13691973-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13691973C>T , CM000667.2:g.13691973C>T GRCh38
NC_000005.9:g.13692082C>T , CM000667.1:g.13692082C>T GRCh37
NC_000005.8:g.13745082C>T NCBI36
NG_013081.1:g.257508G>A
NG_013081.2:g.257508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683611.1:n.1219G>A
ENST00000265104.5:c.*11G>A MANE Select ENSP00000265104.4:n.*11G>A
ENST00000681290.1:c.*11G>A ENSP00000505288.1:n.*11G>A
ENST00000265104.4:c.*11G>A ENSP00000265104.4:n.*11G>A
NM_001369.2:c.*11G>A NP_001360.1:n.*11G>A
XM_005248262.2:c.*11G>A XP_005248319.1:n.*11G>A
XM_005248262.3:c.*11G>A XP_005248319.2:n.*11G>A
XM_017009177.1:c.*11G>A XP_016864666.1:n.*11G>A
XM_017009178.1:c.*11G>A XP_016864667.1:n.*11G>A
XM_017009179.2:c.*11G>A XP_016864668.1:n.*11G>A
XM_017009185.1:c.*11G>A XP_016864674.1:n.*11G>A
XM_017009186.1:c.*11G>A XP_016864675.1:n.*11G>A
XM_017009188.1:c.*11G>A XP_016864677.1:n.*11G>A
XM_024454388.1:c.*11G>A XP_024310156.1:n.*11G>A
XM_024454389.1:c.*11G>A XP_024310157.1:n.*11G>A
NM_001369.3:c.*11G>A MANE Select NP_001360.1:n.*11G>A