Canonical Allele Identifier: CA359218754

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919325A>T (hg19) ; chr5:g.13919216A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919216A>T , CM000667.2:g.13919216A>T	GRCh38
NC_000005.9:g.13919325A>T , CM000667.1:g.13919325A>T	GRCh37
NC_000005.8:g.13972325A>T	NCBI36
NG_013081.1:g.30265T>A
NG_013081.2:g.30265T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.991T>A
ENST00000682376.1:n.979T>A
ENST00000682586.1:n.1028T>A
ENST00000683011.1:n.874T>A
ENST00000683967.1:n.1034T>A
ENST00000684013.1:n.1034T>A
ENST00000684099.1:n.1030T>A
ENST00000265104.5:c.935T>A MANE Select	ENSP00000265104.4:p.Val312Glu
ENST00000680213.1:c.695T>A	ENSP00000506622.1:p.Val232Glu
ENST00000681290.1:c.890T>A	ENSP00000505288.1:p.Val297Glu
ENST00000265104.4:c.935T>A	ENSP00000265104.4:p.Val312Glu
ENST00000508040.1:n.1343T>A
NM_001369.2:c.935T>A	NP_001360.1:p.Val312Glu
XM_005248262.2:c.890T>A	XP_005248319.1:p.Val297Glu
XM_011513990.1:c.935T>A	XP_011512292.1:p.Val312Glu
XR_925598.1:n.1142T>A
XM_005248262.3:c.1043T>A	XP_005248319.2:p.Val348Glu
XM_017009177.1:c.1043T>A	XP_016864666.1:p.Val348Glu
XM_017009178.1:c.-53T>A	XP_016864667.1:n.-53T>A
XM_017009180.1:c.1043T>A	XP_016864669.1:p.Val348Glu
XM_017009181.1:c.1043T>A	XP_016864670.1:p.Val348Glu
XM_017009182.1:c.1043T>A	XP_016864671.1:p.Val348Glu
XM_017009183.1:c.1043T>A	XP_016864672.1:p.Val348Glu
XM_017009184.1:c.1043T>A	XP_016864673.1:p.Val348Glu
XM_017009187.1:c.1043T>A	XP_016864676.1:p.Val348Glu
XM_024454388.1:c.-1972T>A	XP_024310156.1:n.-1972T>A
XM_024454389.1:c.-1025T>A	XP_024310157.1:n.-1025T>A
XR_001742034.1:n.1060T>A
XR_001742035.1:n.1060T>A
NM_001369.3:c.935T>A MANE Select	NP_001360.1:p.Val312Glu