Canonical Allele Identifier: CA359209682

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776785C>T (hg19) ; chr5:g.13776676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776676C>T , CM000667.2:g.13776676C>T	GRCh38
NC_000005.9:g.13776785C>T , CM000667.1:g.13776785C>T	GRCh37
NC_000005.8:g.13829785C>T	NCBI36
NG_013081.1:g.172805G>A
NG_013081.2:g.172805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9136G>A MANE Select	ENSP00000265104.4:p.Asp3046Asn
ENST00000681290.1:c.9091G>A	ENSP00000505288.1:p.Asp3031Asn
ENST00000265104.4:c.9136G>A	ENSP00000265104.4:p.Asp3046Asn
NM_001369.2:c.9136G>A	NP_001360.1:p.Asp3046Asn
XM_005248262.2:c.9091G>A	XP_005248319.1:p.Asp3031Asn
XM_011513990.1:c.*23G>A	XP_011512292.1:n.*23G>A
XR_925598.1:n.9207G>A
XM_005248262.3:c.9244G>A	XP_005248319.2:p.Asp3082Asn
XM_017009177.1:c.9244G>A	XP_016864666.1:p.Asp3082Asn
XM_017009178.1:c.8149G>A	XP_016864667.1:p.Asp2717Asn
XM_017009179.2:c.8149G>A	XP_016864668.1:p.Asp2717Asn
XM_017009180.1:c.9244G>A	XP_016864669.1:p.Asp3082Asn
XM_017009181.1:c.9244G>A	XP_016864670.1:p.Asp3082Asn
XM_017009182.1:c.9244G>A	XP_016864671.1:p.Asp3082Asn
XM_017009183.1:c.9244G>A	XP_016864672.1:p.Asp3082Asn
XM_017009184.1:c.*23G>A	XP_016864673.1:n.*23G>A
XM_017009185.1:c.4333G>A	XP_016864674.1:p.Asp1445Asn
XM_017009186.1:c.3886G>A	XP_016864675.1:p.Asp1296Asn
XM_017009188.1:c.3223G>A	XP_016864677.1:p.Asp1075Asn
XM_024454388.1:c.8149G>A	XP_024310156.1:p.Asp2717Asn
XM_024454389.1:c.7738G>A	XP_024310157.1:p.Asp2580Asn
XR_001742034.1:n.9130G>A
XR_001742035.1:n.9125G>A
NM_001369.3:c.9136G>A MANE Select	NP_001360.1:p.Asp3046Asn