Canonical Allele Identifier: CA443275874

Gene: DNAH5

Linked Data

• dbSNP Id: rs1776986699
• gnomAD v4: 5-13919224-C-T
• MyVariant Identifiers: chr5:g.13919333C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919224C>T , CM000667.2:g.13919224C>T	GRCh38
NC_000005.9:g.13919333C>T , CM000667.1:g.13919333C>T	GRCh37
NC_000005.8:g.13972333C>T	NCBI36
NG_013081.1:g.30257G>A
NG_013081.2:g.30257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.983G>A
ENST00000682376.1:n.971G>A
ENST00000682586.1:n.1020G>A
ENST00000683011.1:n.866G>A
ENST00000683967.1:n.1026G>A
ENST00000684013.1:n.1026G>A
ENST00000684099.1:n.1022G>A
ENST00000265104.5:c.927G>A MANE Select	ENSP00000265104.4:p.Val309=
ENST00000680213.1:c.687G>A	ENSP00000506622.1:p.Val229=
ENST00000681290.1:c.882G>A	ENSP00000505288.1:p.Val294=
ENST00000265104.4:c.927G>A	ENSP00000265104.4:p.Val309=
ENST00000508040.1:n.1335G>A
NM_001369.2:c.927G>A	NP_001360.1:p.Val309=
XM_005248262.2:c.882G>A	XP_005248319.1:p.Val294=
XM_011513990.1:c.927G>A	XP_011512292.1:p.Val309=
XR_925598.1:n.1134G>A
XM_005248262.3:c.1035G>A	XP_005248319.2:p.Val345=
XM_017009177.1:c.1035G>A	XP_016864666.1:p.Val345=
XM_017009178.1:c.-61G>A	XP_016864667.1:n.-61G>A
XM_017009180.1:c.1035G>A	XP_016864669.1:p.Val345=
XM_017009181.1:c.1035G>A	XP_016864670.1:p.Val345=
XM_017009182.1:c.1035G>A	XP_016864671.1:p.Val345=
XM_017009183.1:c.1035G>A	XP_016864672.1:p.Val345=
XM_017009184.1:c.1035G>A	XP_016864673.1:p.Val345=
XM_017009187.1:c.1035G>A	XP_016864676.1:p.Val345=
XM_024454388.1:c.-1980G>A	XP_024310156.1:n.-1980G>A
XM_024454389.1:c.-1033G>A	XP_024310157.1:n.-1033G>A
XR_001742034.1:n.1052G>A
XR_001742035.1:n.1052G>A
NM_001369.3:c.927G>A MANE Select	NP_001360.1:p.Val309=