Canonical Allele Identifier: CA359191445

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753355-C-T
• COSMIC: COSM3608907
• MyVariant Identifiers: chr5:g.13753464C>T (hg19) ; chr5:g.13753355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753355C>T , CM000667.2:g.13753355C>T	GRCh38
NC_000005.9:g.13753464C>T , CM000667.1:g.13753464C>T	GRCh37
NC_000005.8:g.13806464C>T	NCBI36
NG_013081.1:g.196126G>A
NG_013081.2:g.196126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10750G>A MANE Select	ENSP00000265104.4:p.Asp3584Asn
ENST00000681290.1:c.10705G>A	ENSP00000505288.1:p.Asp3569Asn
ENST00000265104.4:c.10750G>A	ENSP00000265104.4:p.Asp3584Asn
NM_001369.2:c.10750G>A	NP_001360.1:p.Asp3584Asn
XM_005248262.2:c.10705G>A	XP_005248319.1:p.Asp3569Asn
XM_005248262.3:c.10858G>A	XP_005248319.2:p.Asp3620Asn
XM_017009177.1:c.10858G>A	XP_016864666.1:p.Asp3620Asn
XM_017009178.1:c.9763G>A	XP_016864667.1:p.Asp3255Asn
XM_017009179.2:c.9763G>A	XP_016864668.1:p.Asp3255Asn
XM_017009180.1:c.10858G>A	XP_016864669.1:p.Asp3620Asn
XM_017009181.1:c.10858G>A	XP_016864670.1:p.Asp3620Asn
XM_017009182.1:c.10858G>A	XP_016864671.1:p.Asp3620Asn
XM_017009185.1:c.5947G>A	XP_016864674.1:p.Asp1983Asn
XM_017009186.1:c.5500G>A	XP_016864675.1:p.Asp1834Asn
XM_017009188.1:c.4837G>A	XP_016864677.1:p.Asp1613Asn
XM_024454388.1:c.9763G>A	XP_024310156.1:p.Asp3255Asn
XM_024454389.1:c.9352G>A	XP_024310157.1:p.Asp3118Asn
NM_001369.3:c.10750G>A MANE Select	NP_001360.1:p.Asp3584Asn