Canonical Allele Identifier: CA359196957

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708206-C-T
• MyVariant Identifiers: chr5:g.13708315C>T (hg19) ; chr5:g.13708206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708206C>T , CM000667.2:g.13708206C>T	GRCh38
NC_000005.9:g.13708315C>T , CM000667.1:g.13708315C>T	GRCh37
NC_000005.8:g.13761315C>T	NCBI36
NG_013081.1:g.241275G>A
NG_013081.2:g.241275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.588G>A
ENST00000265104.5:c.13255G>A MANE Select	ENSP00000265104.4:p.Asp4419Asn
ENST00000681290.1:c.13210G>A	ENSP00000505288.1:p.Asp4404Asn
ENST00000265104.4:c.13255G>A	ENSP00000265104.4:p.Asp4419Asn
NM_001369.2:c.13255G>A	NP_001360.1:p.Asp4419Asn
XM_005248262.2:c.13210G>A	XP_005248319.1:p.Asp4404Asn
XM_005248262.3:c.13363G>A	XP_005248319.2:p.Asp4455Asn
XM_017009177.1:c.12943G>A	XP_016864666.1:p.Asp4315Asn
XM_017009178.1:c.12268G>A	XP_016864667.1:p.Asp4090Asn
XM_017009179.2:c.12268G>A	XP_016864668.1:p.Asp4090Asn
XM_017009185.1:c.8452G>A	XP_016864674.1:p.Asp2818Asn
XM_017009186.1:c.8005G>A	XP_016864675.1:p.Asp2669Asn
XM_017009188.1:c.7342G>A	XP_016864677.1:p.Asp2448Asn
XM_024454388.1:c.12268G>A	XP_024310156.1:p.Asp4090Asn
XM_024454389.1:c.11857G>A	XP_024310157.1:p.Asp3953Asn
NM_001369.3:c.13255G>A MANE Select	NP_001360.1:p.Asp4419Asn