Canonical Allele Identifier: CA359218811

Gene: DNAH5

Linked Data

• COSMIC: COSM4562346
• MyVariant Identifiers: chr5:g.13919338C>T (hg19) ; chr5:g.13919229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919229C>T , CM000667.2:g.13919229C>T	GRCh38
NC_000005.9:g.13919338C>T , CM000667.1:g.13919338C>T	GRCh37
NC_000005.8:g.13972338C>T	NCBI36
NG_013081.1:g.30252G>A
NG_013081.2:g.30252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.978G>A
ENST00000682376.1:n.966G>A
ENST00000682586.1:n.1015G>A
ENST00000683011.1:n.861G>A
ENST00000683967.1:n.1021G>A
ENST00000684013.1:n.1021G>A
ENST00000684099.1:n.1017G>A
ENST00000265104.5:c.922G>A MANE Select	ENSP00000265104.4:p.Asp308Asn
ENST00000680213.1:c.682G>A	ENSP00000506622.1:p.Asp228Asn
ENST00000681290.1:c.877G>A	ENSP00000505288.1:p.Asp293Asn
ENST00000265104.4:c.922G>A	ENSP00000265104.4:p.Asp308Asn
ENST00000508040.1:n.1330G>A
NM_001369.2:c.922G>A	NP_001360.1:p.Asp308Asn
XM_005248262.2:c.877G>A	XP_005248319.1:p.Asp293Asn
XM_011513990.1:c.922G>A	XP_011512292.1:p.Asp308Asn
XR_925598.1:n.1129G>A
XM_005248262.3:c.1030G>A	XP_005248319.2:p.Asp344Asn
XM_017009177.1:c.1030G>A	XP_016864666.1:p.Asp344Asn
XM_017009178.1:c.-66G>A	XP_016864667.1:n.-66G>A
XM_017009180.1:c.1030G>A	XP_016864669.1:p.Asp344Asn
XM_017009181.1:c.1030G>A	XP_016864670.1:p.Asp344Asn
XM_017009182.1:c.1030G>A	XP_016864671.1:p.Asp344Asn
XM_017009183.1:c.1030G>A	XP_016864672.1:p.Asp344Asn
XM_017009184.1:c.1030G>A	XP_016864673.1:p.Asp344Asn
XM_017009187.1:c.1030G>A	XP_016864676.1:p.Asp344Asn
XM_024454388.1:c.-1985G>A	XP_024310156.1:n.-1985G>A
XM_024454389.1:c.-1038G>A	XP_024310157.1:n.-1038G>A
XR_001742034.1:n.1047G>A
XR_001742035.1:n.1047G>A
NM_001369.3:c.922G>A MANE Select	NP_001360.1:p.Asp308Asn