Canonical Allele Identifier: CA359209528

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776661C>T , CM000667.2:g.13776661C>T	GRCh38
NC_000005.9:g.13776770C>T , CM000667.1:g.13776770C>T	GRCh37
NC_000005.8:g.13829770C>T	NCBI36
NG_013081.1:g.172820G>A
NG_013081.2:g.172820G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9151G>A MANE Select	NP_001360.1:p.Asp3051Asn
ENST00000265104.5:c.9151G>A MANE Select	ENSP00000265104.4:p.Asp3051Asn
NM_001369.2:c.9151G>A	NP_001360.1:p.Asp3051Asn
ENST00000265104.4:c.9151G>A	ENSP00000265104.4:p.Asp3051Asn
ENST00000681290.1:c.9106G>A	ENSP00000505288.1:p.Asp3036Asn
XM_005248262.2:c.9106G>A	XP_005248319.1:p.Asp3036Asn
XM_005248262.3:c.9259G>A	XP_005248319.2:p.Asp3087Asn
XM_011513990.1:c.*38G>A	XP_011512292.1:n.*38G>A
XM_017009177.1:c.9259G>A	XP_016864666.1:p.Asp3087Asn
XM_017009178.1:c.8164G>A	XP_016864667.1:p.Asp2722Asn
XM_017009179.2:c.8164G>A	XP_016864668.1:p.Asp2722Asn
XM_017009180.1:c.9259G>A	XP_016864669.1:p.Asp3087Asn
XM_017009181.1:c.9259G>A	XP_016864670.1:p.Asp3087Asn
XM_017009182.1:c.9259G>A	XP_016864671.1:p.Asp3087Asn
XM_017009183.1:c.9259G>A	XP_016864672.1:p.Asp3087Asn
XM_017009184.1:c.*38G>A	XP_016864673.1:n.*38G>A
XM_017009185.1:c.4348G>A	XP_016864674.1:p.Asp1450Asn
XM_017009186.1:c.3901G>A	XP_016864675.1:p.Asp1301Asn
XM_017009188.1:c.3238G>A	XP_016864677.1:p.Asp1080Asn
XM_024454388.1:c.8164G>A	XP_024310156.1:p.Asp2722Asn
XM_024454389.1:c.7753G>A	XP_024310157.1:p.Asp2585Asn
XR_001742034.1:n.9145G>A
XR_001742035.1:n.9140G>A
XR_925598.1:n.9222G>A