Canonical Allele Identifier: CA359210651

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841694-G-T
• MyVariant Identifiers: chr5:g.13841803G>T (hg19) ; chr5:g.13841694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841694G>T , CM000667.2:g.13841694G>T	GRCh38
NC_000005.9:g.13841803G>T , CM000667.1:g.13841803G>T	GRCh37
NC_000005.8:g.13894803G>T	NCBI36
NG_013081.1:g.107787C>A
NG_013081.2:g.107787C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5482C>A MANE Select	ENSP00000265104.4:p.Gln1828Lys
ENST00000681290.1:c.5437C>A	ENSP00000505288.1:p.Gln1813Lys
ENST00000265104.4:c.5482C>A	ENSP00000265104.4:p.Gln1828Lys
NM_001369.2:c.5482C>A	NP_001360.1:p.Gln1828Lys
XM_005248262.2:c.5437C>A	XP_005248319.1:p.Gln1813Lys
XM_011513990.1:c.5482C>A	XP_011512292.1:p.Gln1828Lys
XR_925598.1:n.5689C>A
XM_005248262.3:c.5590C>A	XP_005248319.2:p.Gln1864Lys
XM_017009177.1:c.5590C>A	XP_016864666.1:p.Gln1864Lys
XM_017009178.1:c.4495C>A	XP_016864667.1:p.Gln1499Lys
XM_017009179.2:c.4495C>A	XP_016864668.1:p.Gln1499Lys
XM_017009180.1:c.5590C>A	XP_016864669.1:p.Gln1864Lys
XM_017009181.1:c.5590C>A	XP_016864670.1:p.Gln1864Lys
XM_017009182.1:c.5590C>A	XP_016864671.1:p.Gln1864Lys
XM_017009183.1:c.5590C>A	XP_016864672.1:p.Gln1864Lys
XM_017009184.1:c.5590C>A	XP_016864673.1:p.Gln1864Lys
XM_017009185.1:c.679C>A	XP_016864674.1:p.Gln227Lys
XM_017009186.1:c.232C>A	XP_016864675.1:p.Gln78Lys
XM_017009187.1:c.5590C>A	XP_016864676.1:p.Gln1864Lys
XM_024454388.1:c.4495C>A	XP_024310156.1:p.Gln1499Lys
XM_024454389.1:c.4084C>A	XP_024310157.1:p.Gln1362Lys
XR_001742034.1:n.5607C>A
XR_001742035.1:n.5607C>A
NM_001369.3:c.5482C>A MANE Select	NP_001360.1:p.Gln1828Lys