Canonical Allele Identifier: CA3202467

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769516G>A , CM000667.2:g.13769516G>A	GRCh38
NC_000005.9:g.13769625G>A , CM000667.1:g.13769625G>A	GRCh37
NC_000005.8:g.13822625G>A	NCBI36
NG_013081.1:g.179965C>T
NG_013081.2:g.179965C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9705C>T MANE Select	NP_001360.1:p.Asn3235=
ENST00000265104.5:c.9705C>T MANE Select	ENSP00000265104.4:p.Asn3235=
NM_001369.2:c.9705C>T	NP_001360.1:p.Asn3235=
ENST00000265104.4:c.9705C>T	ENSP00000265104.4:p.Asn3235=
ENST00000504001.3:n.417C>T
ENST00000681290.1:c.9660C>T	ENSP00000505288.1:p.Asn3220=
XM_005248262.2:c.9660C>T	XP_005248319.1:p.Asn3220=
XM_005248262.3:c.9813C>T	XP_005248319.2:p.Asn3271=
XM_017009177.1:c.9813C>T	XP_016864666.1:p.Asn3271=
XM_017009178.1:c.8718C>T	XP_016864667.1:p.Asn2906=
XM_017009179.2:c.8718C>T	XP_016864668.1:p.Asn2906=
XM_017009180.1:c.9813C>T	XP_016864669.1:p.Asn3271=
XM_017009181.1:c.9813C>T	XP_016864670.1:p.Asn3271=
XM_017009182.1:c.9813C>T	XP_016864671.1:p.Asn3271=
XM_017009185.1:c.4902C>T	XP_016864674.1:p.Asn1634=
XM_017009186.1:c.4455C>T	XP_016864675.1:p.Asn1485=
XM_017009188.1:c.3792C>T	XP_016864677.1:p.Asn1264=
XM_024454388.1:c.8718C>T	XP_024310156.1:p.Asn2906=
XM_024454389.1:c.8307C>T	XP_024310157.1:p.Asn2769=