Canonical Allele Identifier: CA359197156

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708341G>T (hg19) ; chr5:g.13708232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708232G>T , CM000667.2:g.13708232G>T	GRCh38
NC_000005.9:g.13708341G>T , CM000667.1:g.13708341G>T	GRCh37
NC_000005.8:g.13761341G>T	NCBI36
NG_013081.1:g.241249C>A
NG_013081.2:g.241249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.562C>A
ENST00000265104.5:c.13229C>A MANE Select	ENSP00000265104.4:p.Thr4410Asn
ENST00000681290.1:c.13184C>A	ENSP00000505288.1:p.Thr4395Asn
ENST00000265104.4:c.13229C>A	ENSP00000265104.4:p.Thr4410Asn
NM_001369.2:c.13229C>A	NP_001360.1:p.Thr4410Asn
XM_005248262.2:c.13184C>A	XP_005248319.1:p.Thr4395Asn
XM_005248262.3:c.13337C>A	XP_005248319.2:p.Thr4446Asn
XM_017009177.1:c.12917C>A	XP_016864666.1:p.Thr4306Asn
XM_017009178.1:c.12242C>A	XP_016864667.1:p.Thr4081Asn
XM_017009179.2:c.12242C>A	XP_016864668.1:p.Thr4081Asn
XM_017009185.1:c.8426C>A	XP_016864674.1:p.Thr2809Asn
XM_017009186.1:c.7979C>A	XP_016864675.1:p.Thr2660Asn
XM_017009188.1:c.7316C>A	XP_016864677.1:p.Thr2439Asn
XM_024454388.1:c.12242C>A	XP_024310156.1:p.Thr4081Asn
XM_024454389.1:c.11831C>A	XP_024310157.1:p.Thr3944Asn
NM_001369.3:c.13229C>A MANE Select	NP_001360.1:p.Thr4410Asn