Canonical Allele Identifier: CA359205241

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13771051T>A (hg19) ; chr5:g.13770942T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770942T>A , CM000667.2:g.13770942T>A	GRCh38
NC_000005.9:g.13771051T>A , CM000667.1:g.13771051T>A	GRCh37
NC_000005.8:g.13824051T>A	NCBI36
NG_013081.1:g.178539A>T
NG_013081.2:g.178539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9412A>T MANE Select	ENSP00000265104.4:p.Ser3138Cys
ENST00000681290.1:c.9367A>T	ENSP00000505288.1:p.Ser3123Cys
ENST00000265104.4:c.9412A>T	ENSP00000265104.4:p.Ser3138Cys
ENST00000504001.3:n.124A>T
NM_001369.2:c.9412A>T	NP_001360.1:p.Ser3138Cys
XM_005248262.2:c.9367A>T	XP_005248319.1:p.Ser3123Cys
XM_005248262.3:c.9520A>T	XP_005248319.2:p.Ser3174Cys
XM_017009177.1:c.9520A>T	XP_016864666.1:p.Ser3174Cys
XM_017009178.1:c.8425A>T	XP_016864667.1:p.Ser2809Cys
XM_017009179.2:c.8425A>T	XP_016864668.1:p.Ser2809Cys
XM_017009180.1:c.9520A>T	XP_016864669.1:p.Ser3174Cys
XM_017009181.1:c.9520A>T	XP_016864670.1:p.Ser3174Cys
XM_017009182.1:c.9520A>T	XP_016864671.1:p.Ser3174Cys
XM_017009183.1:c.9520A>T	XP_016864672.1:p.Ser3174Cys
XM_017009185.1:c.4609A>T	XP_016864674.1:p.Ser1537Cys
XM_017009186.1:c.4162A>T	XP_016864675.1:p.Ser1388Cys
XM_017009188.1:c.3499A>T	XP_016864677.1:p.Ser1167Cys
XM_024454388.1:c.8425A>T	XP_024310156.1:p.Ser2809Cys
XM_024454389.1:c.8014A>T	XP_024310157.1:p.Ser2672Cys
NM_001369.3:c.9412A>T MANE Select	NP_001360.1:p.Ser3138Cys