Canonical Allele Identifier: CA359188731

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692216A>T (hg19) ; chr5:g.13692107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692107A>T , CM000667.2:g.13692107A>T	GRCh38
NC_000005.9:g.13692216A>T , CM000667.1:g.13692216A>T	GRCh37
NC_000005.8:g.13745216A>T	NCBI36
NG_013081.1:g.257374T>A
NG_013081.2:g.257374T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1085T>A
ENST00000265104.5:c.13752T>A MANE Select	ENSP00000265104.4:p.Cys4584Ter
ENST00000681290.1:c.13707T>A	ENSP00000505288.1:p.Cys4569Ter
ENST00000265104.4:c.13752T>A	ENSP00000265104.4:p.Cys4584Ter
NM_001369.2:c.13752T>A	NP_001360.1:p.Cys4584Ter
XM_005248262.2:c.13707T>A	XP_005248319.1:p.Cys4569Ter
XM_005248262.3:c.13860T>A	XP_005248319.2:p.Cys4620Ter
XM_017009177.1:c.13440T>A	XP_016864666.1:p.Cys4480Ter
XM_017009178.1:c.12765T>A	XP_016864667.1:p.Cys4255Ter
XM_017009179.2:c.12765T>A	XP_016864668.1:p.Cys4255Ter
XM_017009185.1:c.8949T>A	XP_016864674.1:p.Cys2983Ter
XM_017009186.1:c.8502T>A	XP_016864675.1:p.Cys2834Ter
XM_017009188.1:c.7839T>A	XP_016864677.1:p.Cys2613Ter
XM_024454388.1:c.12765T>A	XP_024310156.1:p.Cys4255Ter
XM_024454389.1:c.12354T>A	XP_024310157.1:p.Cys4118Ter
NM_001369.3:c.13752T>A MANE Select	NP_001360.1:p.Cys4584Ter