Canonical Allele Identifier: CA359190618

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13700645T>C , CM000667.2:g.13700645T>C	GRCh38
NC_000005.9:g.13700754T>C , CM000667.1:g.13700754T>C	GRCh37
NC_000005.8:g.13753754T>C	NCBI36
NG_013081.1:g.248836A>G
NG_013081.2:g.248836A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13718A>G MANE Select	NP_001360.1:p.Asn4573Ser
ENST00000265104.5:c.13718A>G MANE Select	ENSP00000265104.4:p.Asn4573Ser
NM_001369.2:c.13718A>G	NP_001360.1:p.Asn4573Ser
ENST00000265104.4:c.13718A>G	ENSP00000265104.4:p.Asn4573Ser
ENST00000681290.1:c.13673A>G	ENSP00000505288.1:p.Asn4558Ser
ENST00000683611.1:n.1051A>G
XM_005248262.2:c.13673A>G	XP_005248319.1:p.Asn4558Ser
XM_005248262.3:c.13826A>G	XP_005248319.2:p.Asn4609Ser
XM_017009177.1:c.13406A>G	XP_016864666.1:p.Asn4469Ser
XM_017009178.1:c.12731A>G	XP_016864667.1:p.Asn4244Ser
XM_017009179.2:c.12731A>G	XP_016864668.1:p.Asn4244Ser
XM_017009185.1:c.8915A>G	XP_016864674.1:p.Asn2972Ser
XM_017009186.1:c.8468A>G	XP_016864675.1:p.Asn2823Ser
XM_017009188.1:c.7805A>G	XP_016864677.1:p.Asn2602Ser
XM_024454388.1:c.12731A>G	XP_024310156.1:p.Asn4244Ser
XM_024454389.1:c.12320A>G	XP_024310157.1:p.Asn4107Ser