Canonical Allele Identifier: CA113960386

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916369C>G , CM000667.2:g.13916369C>G	GRCh38
NC_000005.9:g.13916478C>G , CM000667.1:g.13916478C>G	GRCh37
NC_000005.8:g.13969478C>G	NCBI36
NG_013081.1:g.33112G>C
NG_013081.2:g.33112G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1176G>C MANE Select	NP_001360.1:p.Lys392Asn
ENST00000265104.5:c.1176G>C MANE Select	ENSP00000265104.4:p.Lys392Asn
NM_001369.2:c.1176G>C	NP_001360.1:p.Lys392Asn
ENST00000265104.4:c.1176G>C	ENSP00000265104.4:p.Lys392Asn
ENST00000508040.1:n.1584G>C
ENST00000680213.1:c.936G>C	ENSP00000506622.1:p.Lys312Asn
ENST00000680213.2:n.1232G>C
ENST00000681290.1:c.1131G>C	ENSP00000505288.1:p.Lys377Asn
ENST00000682376.1:n.3139G>C
ENST00000683011.1:n.1115G>C
ENST00000683967.1:n.1275G>C
ENST00000684013.1:n.1275G>C
ENST00000684099.1:n.1271G>C
XM_005248262.2:c.1131G>C	XP_005248319.1:p.Lys377Asn
XM_005248262.3:c.1284G>C	XP_005248319.2:p.Lys428Asn
XM_011513990.1:c.1176G>C	XP_011512292.1:p.Lys392Asn
XM_017009177.1:c.1284G>C	XP_016864666.1:p.Lys428Asn
XM_017009178.1:c.189G>C	XP_016864667.1:p.Lys63Asn
XM_017009179.2:c.189G>C	XP_016864668.1:p.Lys63Asn
XM_017009180.1:c.1284G>C	XP_016864669.1:p.Lys428Asn
XM_017009181.1:c.1284G>C	XP_016864670.1:p.Lys428Asn
XM_017009182.1:c.1284G>C	XP_016864671.1:p.Lys428Asn
XM_017009183.1:c.1284G>C	XP_016864672.1:p.Lys428Asn
XM_017009184.1:c.1284G>C	XP_016864673.1:p.Lys428Asn
XM_017009187.1:c.1284G>C	XP_016864676.1:p.Lys428Asn
XM_024454388.1:c.189G>C	XP_024310156.1:p.Lys63Asn
XM_024454389.1:c.-784G>C	XP_024310157.1:n.-784G>C
XR_001742034.1:n.1301G>C
XR_001742035.1:n.1301G>C
XR_925598.1:n.1383G>C