Canonical Allele Identifier: CA3201698

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721000G>A , CM000667.2:g.13721000G>A	GRCh38
NC_000005.9:g.13721109G>A , CM000667.1:g.13721109G>A	GRCh37
NC_000005.8:g.13774109G>A	NCBI36
NG_013081.1:g.228481C>T
NG_013081.2:g.228481C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12279C>T MANE Select	NP_001360.1:p.Asn4093=
ENST00000265104.5:c.12279C>T MANE Select	ENSP00000265104.4:p.Asn4093=
NM_001369.2:c.12279C>T	NP_001360.1:p.Asn4093=
ENST00000265104.4:c.12279C>T	ENSP00000265104.4:p.Asn4093=
ENST00000681290.1:c.12234C>T	ENSP00000505288.1:p.Asn4078=
XM_005248262.2:c.12234C>T	XP_005248319.1:p.Asn4078=
XM_005248262.3:c.12387C>T	XP_005248319.2:p.Asn4129=
XM_017009177.1:c.12387C>T	XP_016864666.1:p.Asn4129=
XM_017009178.1:c.11292C>T	XP_016864667.1:p.Asn3764=
XM_017009179.2:c.11292C>T	XP_016864668.1:p.Asn3764=
XM_017009180.1:c.12387C>T	XP_016864669.1:p.Asn4129=
XM_017009185.1:c.7476C>T	XP_016864674.1:p.Asn2492=
XM_017009186.1:c.7029C>T	XP_016864675.1:p.Asn2343=
XM_017009188.1:c.6366C>T	XP_016864677.1:p.Asn2122=
XM_024454388.1:c.11292C>T	XP_024310156.1:p.Asn3764=
XM_024454389.1:c.10881C>T	XP_024310157.1:p.Asn3627=