Canonical Allele Identifier: CA359226896

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13928228A>T (hg19) ; chr5:g.13928119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928119A>T , CM000667.2:g.13928119A>T	GRCh38
NC_000005.9:g.13928228A>T , CM000667.1:g.13928228A>T	GRCh37
NC_000005.8:g.13981228A>T	NCBI36
NG_013081.1:g.21362T>A
NG_013081.2:g.21362T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.308T>A
ENST00000682376.1:n.296T>A
ENST00000682586.1:n.296T>A
ENST00000683011.1:n.286T>A
ENST00000683967.1:n.302T>A
ENST00000684013.1:n.302T>A
ENST00000684099.1:n.347T>A
ENST00000265104.5:c.252T>A MANE Select	ENSP00000265104.4:p.Tyr84Ter
ENST00000680213.1:c.12T>A	ENSP00000506622.1:p.Tyr4Ter
ENST00000681290.1:c.207T>A	ENSP00000505288.1:p.Tyr69Ter
ENST00000265104.4:c.252T>A	ENSP00000265104.4:p.Tyr84Ter
ENST00000508040.1:n.611T>A
NM_001369.2:c.252T>A	NP_001360.1:p.Tyr84Ter
XM_005248262.2:c.207T>A	XP_005248319.1:p.Tyr69Ter
XM_011513990.1:c.252T>A	XP_011512292.1:p.Tyr84Ter
XR_925598.1:n.459T>A
XM_005248262.3:c.360T>A	XP_005248319.2:p.Tyr120Ter
XM_017009177.1:c.360T>A	XP_016864666.1:p.Tyr120Ter
XM_017009178.1:c.-785T>A	XP_016864667.1:n.-785T>A
XM_017009180.1:c.360T>A	XP_016864669.1:p.Tyr120Ter
XM_017009181.1:c.360T>A	XP_016864670.1:p.Tyr120Ter
XM_017009182.1:c.360T>A	XP_016864671.1:p.Tyr120Ter
XM_017009183.1:c.360T>A	XP_016864672.1:p.Tyr120Ter
XM_017009184.1:c.360T>A	XP_016864673.1:p.Tyr120Ter
XM_017009187.1:c.360T>A	XP_016864676.1:p.Tyr120Ter
XM_024454388.1:c.-2655T>A	XP_024310156.1:n.-2655T>A
XM_024454389.1:c.-1708T>A	XP_024310157.1:n.-1708T>A
XR_001742034.1:n.377T>A
XR_001742035.1:n.377T>A
NM_001369.3:c.252T>A MANE Select	NP_001360.1:p.Tyr84Ter