Canonical Allele Identifier: CA359221264

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13793595-T-C
• MyVariant Identifiers: chr5:g.13793704T>C (hg19) ; chr5:g.13793595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793595T>C , CM000667.2:g.13793595T>C	GRCh38
NC_000005.9:g.13793704T>C , CM000667.1:g.13793704T>C	GRCh37
NC_000005.8:g.13846704T>C	NCBI36
NG_013081.1:g.155886A>G
NG_013081.2:g.155886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8144A>G MANE Select	ENSP00000265104.4:p.Asp2715Gly
ENST00000681290.1:c.8099A>G	ENSP00000505288.1:p.Asp2700Gly
ENST00000265104.4:c.8144A>G	ENSP00000265104.4:p.Asp2715Gly
NM_001369.2:c.8144A>G	NP_001360.1:p.Asp2715Gly
XM_005248262.2:c.8099A>G	XP_005248319.1:p.Asp2700Gly
XM_011513990.1:c.8144A>G	XP_011512292.1:p.Asp2715Gly
XR_925598.1:n.8351A>G
XM_005248262.3:c.8252A>G	XP_005248319.2:p.Asp2751Gly
XM_017009177.1:c.8252A>G	XP_016864666.1:p.Asp2751Gly
XM_017009178.1:c.7157A>G	XP_016864667.1:p.Asp2386Gly
XM_017009179.2:c.7157A>G	XP_016864668.1:p.Asp2386Gly
XM_017009180.1:c.8252A>G	XP_016864669.1:p.Asp2751Gly
XM_017009181.1:c.8252A>G	XP_016864670.1:p.Asp2751Gly
XM_017009182.1:c.8252A>G	XP_016864671.1:p.Asp2751Gly
XM_017009183.1:c.8252A>G	XP_016864672.1:p.Asp2751Gly
XM_017009184.1:c.8252A>G	XP_016864673.1:p.Asp2751Gly
XM_017009185.1:c.3341A>G	XP_016864674.1:p.Asp1114Gly
XM_017009186.1:c.2894A>G	XP_016864675.1:p.Asp965Gly
XM_017009188.1:c.2231A>G	XP_016864677.1:p.Asp744Gly
XM_024454388.1:c.7157A>G	XP_024310156.1:p.Asp2386Gly
XM_024454389.1:c.6746A>G	XP_024310157.1:p.Asp2249Gly
XR_001742034.1:n.8269A>G
XR_001742035.1:n.8269A>G
NM_001369.3:c.8144A>G MANE Select	NP_001360.1:p.Asp2715Gly