Canonical Allele Identifier: CA1528395870
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692081G= , CM000667.2:g.13692081G= GRCh38
NC_000005.9:g.13692190G= , CM000667.1:g.13692190G= GRCh37
NC_000005.8:g.13745190G= NCBI36
NG_013081.1:g.257400C=
NG_013081.2:g.257400C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1111C=
ENST00000265104.5:c.13778C= MANE Select ENSP00000265104.4:p.Thr4593=
ENST00000681290.1:c.13733C= ENSP00000505288.1:p.Thr4578=
ENST00000265104.4:c.13778C= ENSP00000265104.4:p.Thr4593=
NM_001369.2:c.13778C= NP_001360.1:p.Thr4593=
XM_005248262.2:c.13733C= XP_005248319.1:p.Thr4578=
XM_005248262.3:c.13886C= XP_005248319.2:p.Thr4629=
XM_017009177.1:c.13466C= XP_016864666.1:p.Thr4489=
XM_017009178.1:c.12791C= XP_016864667.1:p.Thr4264=
XM_017009179.2:c.12791C= XP_016864668.1:p.Thr4264=
XM_017009185.1:c.8975C= XP_016864674.1:p.Thr2992=
XM_017009186.1:c.8528C= XP_016864675.1:p.Thr2843=
XM_017009188.1:c.7865C= XP_016864677.1:p.Thr2622=
XM_024454388.1:c.12791C= XP_024310156.1:p.Thr4264=
XM_024454389.1:c.12380C= XP_024310157.1:p.Thr4127=
NM_001369.3:c.13778C= MANE Select NP_001360.1:p.Thr4593=