Canonical Allele Identifier: CA359196653

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708280A>T (hg19) ; chr5:g.13708171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708171A>T , CM000667.2:g.13708171A>T	GRCh38
NC_000005.9:g.13708280A>T , CM000667.1:g.13708280A>T	GRCh37
NC_000005.8:g.13761280A>T	NCBI36
NG_013081.1:g.241310T>A
NG_013081.2:g.241310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.623T>A
ENST00000265104.5:c.13290T>A MANE Select	ENSP00000265104.4:p.Asp4430Glu
ENST00000681290.1:c.13245T>A	ENSP00000505288.1:p.Asp4415Glu
ENST00000265104.4:c.13290T>A	ENSP00000265104.4:p.Asp4430Glu
NM_001369.2:c.13290T>A	NP_001360.1:p.Asp4430Glu
XM_005248262.2:c.13245T>A	XP_005248319.1:p.Asp4415Glu
XM_005248262.3:c.13398T>A	XP_005248319.2:p.Asp4466Glu
XM_017009177.1:c.12978T>A	XP_016864666.1:p.Asp4326Glu
XM_017009178.1:c.12303T>A	XP_016864667.1:p.Asp4101Glu
XM_017009179.2:c.12303T>A	XP_016864668.1:p.Asp4101Glu
XM_017009185.1:c.8487T>A	XP_016864674.1:p.Asp2829Glu
XM_017009186.1:c.8040T>A	XP_016864675.1:p.Asp2680Glu
XM_017009188.1:c.7377T>A	XP_016864677.1:p.Asp2459Glu
XM_024454388.1:c.12303T>A	XP_024310156.1:p.Asp4101Glu
XM_024454389.1:c.11892T>A	XP_024310157.1:p.Asp3964Glu
NM_001369.3:c.13290T>A MANE Select	NP_001360.1:p.Asp4430Glu