Canonical Allele Identifier: CA2673266113
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13692162-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692162T>A , CM000667.2:g.13692162T>A GRCh38
NC_000005.9:g.13692271T>A , CM000667.1:g.13692271T>A GRCh37
NC_000005.8:g.13745271T>A NCBI36
NG_013081.1:g.257319A>T
NG_013081.2:g.257319A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683611.1:n.1057-27A>T
ENST00000265104.5:c.13724-27A>T MANE Select ENSP00000265104.4:n.13724-27A>T
ENST00000681290.1:c.13679-27A>T ENSP00000505288.1:n.13679-27A>T
ENST00000265104.4:c.13724-27A>T ENSP00000265104.4:n.13724-27A>T
NM_001369.2:c.13724-27A>T NP_001360.1:n.13724-27A>T
XM_005248262.2:c.13679-27A>T XP_005248319.1:n.13679-27A>T
XM_005248262.3:c.13832-27A>T XP_005248319.2:n.13832-27A>T
XM_017009177.1:c.13412-27A>T XP_016864666.1:n.13412-27A>T
XM_017009178.1:c.12737-27A>T XP_016864667.1:n.12737-27A>T
XM_017009179.2:c.12737-27A>T XP_016864668.1:n.12737-27A>T
XM_017009185.1:c.8921-27A>T XP_016864674.1:n.8921-27A>T
XM_017009186.1:c.8474-27A>T XP_016864675.1:n.8474-27A>T
XM_017009188.1:c.7811-27A>T XP_016864677.1:n.7811-27A>T
XM_024454388.1:c.12737-27A>T XP_024310156.1:n.12737-27A>T
XM_024454389.1:c.12326-27A>T XP_024310157.1:n.12326-27A>T
NM_001369.3:c.13724-27A>T MANE Select NP_001360.1:n.13724-27A>T