Canonical Allele Identifier: CA359208582

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776537-C-T
• COSMIC: COSM5580863
• MyVariant Identifiers: chr5:g.13776646C>T (hg19) ; chr5:g.13776537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776537C>T , CM000667.2:g.13776537C>T	GRCh38
NC_000005.9:g.13776646C>T , CM000667.1:g.13776646C>T	GRCh37
NC_000005.8:g.13829646C>T	NCBI36
NG_013081.1:g.172944G>A
NG_013081.2:g.172944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9275G>A MANE Select	ENSP00000265104.4:p.Gly3092Glu
ENST00000681290.1:c.9230G>A	ENSP00000505288.1:p.Gly3077Glu
ENST00000265104.4:c.9275G>A	ENSP00000265104.4:p.Gly3092Glu
NM_001369.2:c.9275G>A	NP_001360.1:p.Gly3092Glu
XM_005248262.2:c.9230G>A	XP_005248319.1:p.Gly3077Glu
XM_005248262.3:c.9383G>A	XP_005248319.2:p.Gly3128Glu
XM_017009177.1:c.9383G>A	XP_016864666.1:p.Gly3128Glu
XM_017009178.1:c.8288G>A	XP_016864667.1:p.Gly2763Glu
XM_017009179.2:c.8288G>A	XP_016864668.1:p.Gly2763Glu
XM_017009180.1:c.9383G>A	XP_016864669.1:p.Gly3128Glu
XM_017009181.1:c.9383G>A	XP_016864670.1:p.Gly3128Glu
XM_017009182.1:c.9383G>A	XP_016864671.1:p.Gly3128Glu
XM_017009183.1:c.9383G>A	XP_016864672.1:p.Gly3128Glu
XM_017009185.1:c.4472G>A	XP_016864674.1:p.Gly1491Glu
XM_017009186.1:c.4025G>A	XP_016864675.1:p.Gly1342Glu
XM_017009188.1:c.3362G>A	XP_016864677.1:p.Gly1121Glu
XM_024454388.1:c.8288G>A	XP_024310156.1:p.Gly2763Glu
XM_024454389.1:c.7877G>A	XP_024310157.1:p.Gly2626Glu
NM_001369.3:c.9275G>A MANE Select	NP_001360.1:p.Gly3092Glu