Canonical Allele Identifier: CA2578269524
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13692161-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692161C>T , CM000667.2:g.13692161C>T GRCh38
NC_000005.9:g.13692270C>T , CM000667.1:g.13692270C>T GRCh37
NC_000005.8:g.13745270C>T NCBI36
NG_013081.1:g.257320G>A
NG_013081.2:g.257320G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683611.1:n.1057-26G>A
ENST00000265104.5:c.13724-26G>A MANE Select ENSP00000265104.4:n.13724-26G>A
ENST00000681290.1:c.13679-26G>A ENSP00000505288.1:n.13679-26G>A
ENST00000265104.4:c.13724-26G>A ENSP00000265104.4:n.13724-26G>A
NM_001369.2:c.13724-26G>A NP_001360.1:n.13724-26G>A
XM_005248262.2:c.13679-26G>A XP_005248319.1:n.13679-26G>A
XM_005248262.3:c.13832-26G>A XP_005248319.2:n.13832-26G>A
XM_017009177.1:c.13412-26G>A XP_016864666.1:n.13412-26G>A
XM_017009178.1:c.12737-26G>A XP_016864667.1:n.12737-26G>A
XM_017009179.2:c.12737-26G>A XP_016864668.1:n.12737-26G>A
XM_017009185.1:c.8921-26G>A XP_016864674.1:n.8921-26G>A
XM_017009186.1:c.8474-26G>A XP_016864675.1:n.8474-26G>A
XM_017009188.1:c.7811-26G>A XP_016864677.1:n.7811-26G>A
XM_024454388.1:c.12737-26G>A XP_024310156.1:n.12737-26G>A
XM_024454389.1:c.12326-26G>A XP_024310157.1:n.12326-26G>A
NM_001369.3:c.13724-26G>A MANE Select NP_001360.1:n.13724-26G>A