Canonical Allele Identifier: CA113937766

Gene: DNAH5

Linked Data

• dbSNP Id: rs868564572
• COSMIC: COSM3608997
• MyVariant Identifiers: chr5:g.13776775T>A (hg19) ; chr5:g.13776666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776666T>A , CM000667.2:g.13776666T>A	GRCh38
NC_000005.9:g.13776775T>A , CM000667.1:g.13776775T>A	GRCh37
NC_000005.8:g.13829775T>A	NCBI36
NG_013081.1:g.172815A>T
NG_013081.2:g.172815A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9146A>T MANE Select	ENSP00000265104.4:p.Asn3049Ile
ENST00000681290.1:c.9101A>T	ENSP00000505288.1:p.Asn3034Ile
ENST00000265104.4:c.9146A>T	ENSP00000265104.4:p.Asn3049Ile
NM_001369.2:c.9146A>T	NP_001360.1:p.Asn3049Ile
XM_005248262.2:c.9101A>T	XP_005248319.1:p.Asn3034Ile
XM_011513990.1:c.*33A>T	XP_011512292.1:n.*33A>T
XR_925598.1:n.9217A>T
XM_005248262.3:c.9254A>T	XP_005248319.2:p.Asn3085Ile
XM_017009177.1:c.9254A>T	XP_016864666.1:p.Asn3085Ile
XM_017009178.1:c.8159A>T	XP_016864667.1:p.Asn2720Ile
XM_017009179.2:c.8159A>T	XP_016864668.1:p.Asn2720Ile
XM_017009180.1:c.9254A>T	XP_016864669.1:p.Asn3085Ile
XM_017009181.1:c.9254A>T	XP_016864670.1:p.Asn3085Ile
XM_017009182.1:c.9254A>T	XP_016864671.1:p.Asn3085Ile
XM_017009183.1:c.9254A>T	XP_016864672.1:p.Asn3085Ile
XM_017009184.1:c.*33A>T	XP_016864673.1:n.*33A>T
XM_017009185.1:c.4343A>T	XP_016864674.1:p.Asn1448Ile
XM_017009186.1:c.3896A>T	XP_016864675.1:p.Asn1299Ile
XM_017009188.1:c.3233A>T	XP_016864677.1:p.Asn1078Ile
XM_024454388.1:c.8159A>T	XP_024310156.1:p.Asn2720Ile
XM_024454389.1:c.7748A>T	XP_024310157.1:p.Asn2583Ile
XR_001742034.1:n.9140A>T
XR_001742035.1:n.9135A>T
NM_001369.3:c.9146A>T MANE Select	NP_001360.1:p.Asn3049Ile