Canonical Allele Identifier: CA359218776

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13792012-C-A
• MyVariant Identifiers: chr5:g.13792121C>A (hg19) ; chr5:g.13792012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792012C>A , CM000667.2:g.13792012C>A	GRCh38
NC_000005.9:g.13792121C>A , CM000667.1:g.13792121C>A	GRCh37
NC_000005.8:g.13845121C>A	NCBI36
NG_013081.1:g.157469G>T
NG_013081.2:g.157469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8430G>T MANE Select	ENSP00000265104.4:p.Glu2810Asp
ENST00000681290.1:c.8385G>T	ENSP00000505288.1:p.Glu2795Asp
ENST00000265104.4:c.8430G>T	ENSP00000265104.4:p.Glu2810Asp
NM_001369.2:c.8430G>T	NP_001360.1:p.Glu2810Asp
XM_005248262.2:c.8385G>T	XP_005248319.1:p.Glu2795Asp
XM_011513990.1:c.8430G>T	XP_011512292.1:p.Glu2810Asp
XR_925598.1:n.8637G>T
XM_005248262.3:c.8538G>T	XP_005248319.2:p.Glu2846Asp
XM_017009177.1:c.8538G>T	XP_016864666.1:p.Glu2846Asp
XM_017009178.1:c.7443G>T	XP_016864667.1:p.Glu2481Asp
XM_017009179.2:c.7443G>T	XP_016864668.1:p.Glu2481Asp
XM_017009180.1:c.8538G>T	XP_016864669.1:p.Glu2846Asp
XM_017009181.1:c.8538G>T	XP_016864670.1:p.Glu2846Asp
XM_017009182.1:c.8538G>T	XP_016864671.1:p.Glu2846Asp
XM_017009183.1:c.8538G>T	XP_016864672.1:p.Glu2846Asp
XM_017009184.1:c.8538G>T	XP_016864673.1:p.Glu2846Asp
XM_017009185.1:c.3627G>T	XP_016864674.1:p.Glu1209Asp
XM_017009186.1:c.3180G>T	XP_016864675.1:p.Glu1060Asp
XM_017009188.1:c.2517G>T	XP_016864677.1:p.Glu839Asp
XM_024454388.1:c.7443G>T	XP_024310156.1:p.Glu2481Asp
XM_024454389.1:c.7032G>T	XP_024310157.1:p.Glu2344Asp
XR_001742034.1:n.8555G>T
XR_001742035.1:n.8555G>T
NM_001369.3:c.8430G>T MANE Select	NP_001360.1:p.Glu2810Asp