Canonical Allele Identifier: CA3204902

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13914590G>C , CM000667.2:g.13914590G>C	GRCh38
NC_000005.9:g.13914699G>C , CM000667.1:g.13914699G>C	GRCh37
NC_000005.8:g.13967699G>C	NCBI36
NG_013081.1:g.34891C>G
NG_013081.2:g.34891C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1250C>G MANE Select	NP_001360.1:p.Thr417Ser
ENST00000265104.5:c.1250C>G MANE Select	ENSP00000265104.4:p.Thr417Ser
NM_001369.2:c.1250C>G	NP_001360.1:p.Thr417Ser
ENST00000265104.4:c.1250C>G	ENSP00000265104.4:p.Thr417Ser
ENST00000508040.1:n.1658C>G
ENST00000680213.1:c.1010C>G	ENSP00000506622.1:p.Thr337Ser
ENST00000680213.2:n.1306C>G
ENST00000681290.1:c.1205C>G	ENSP00000505288.1:p.Thr402Ser
ENST00000682376.1:n.4918C>G
ENST00000683011.1:n.1189C>G
ENST00000683967.1:n.3054C>G
ENST00000684013.1:n.1349C>G
ENST00000684099.1:n.1345C>G
XM_005248262.2:c.1205C>G	XP_005248319.1:p.Thr402Ser
XM_005248262.3:c.1358C>G	XP_005248319.2:p.Thr453Ser
XM_011513990.1:c.1250C>G	XP_011512292.1:p.Thr417Ser
XM_017009177.1:c.1358C>G	XP_016864666.1:p.Thr453Ser
XM_017009178.1:c.263C>G	XP_016864667.1:p.Thr88Ser
XM_017009179.2:c.263C>G	XP_016864668.1:p.Thr88Ser
XM_017009180.1:c.1358C>G	XP_016864669.1:p.Thr453Ser
XM_017009181.1:c.1358C>G	XP_016864670.1:p.Thr453Ser
XM_017009182.1:c.1358C>G	XP_016864671.1:p.Thr453Ser
XM_017009183.1:c.1358C>G	XP_016864672.1:p.Thr453Ser
XM_017009184.1:c.1358C>G	XP_016864673.1:p.Thr453Ser
XM_017009187.1:c.1358C>G	XP_016864676.1:p.Thr453Ser
XM_024454388.1:c.263C>G	XP_024310156.1:p.Thr88Ser
XM_024454389.1:c.-710C>G	XP_024310157.1:n.-710C>G
XR_001742034.1:n.1375C>G
XR_001742035.1:n.1375C>G
XR_925598.1:n.1457C>G