Canonical Allele Identifier: CA3205034

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919216A>C , CM000667.2:g.13919216A>C	GRCh38
NC_000005.9:g.13919325A>C , CM000667.1:g.13919325A>C	GRCh37
NC_000005.8:g.13972325A>C	NCBI36
NG_013081.1:g.30265T>G
NG_013081.2:g.30265T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.935T>G MANE Select	NP_001360.1:p.Val312Gly
ENST00000265104.5:c.935T>G MANE Select	ENSP00000265104.4:p.Val312Gly
NM_001369.2:c.935T>G	NP_001360.1:p.Val312Gly
ENST00000265104.4:c.935T>G	ENSP00000265104.4:p.Val312Gly
ENST00000508040.1:n.1343T>G
ENST00000680213.1:c.695T>G	ENSP00000506622.1:p.Val232Gly
ENST00000680213.2:n.991T>G
ENST00000681290.1:c.890T>G	ENSP00000505288.1:p.Val297Gly
ENST00000682376.1:n.979T>G
ENST00000682586.1:n.1028T>G
ENST00000683011.1:n.874T>G
ENST00000683967.1:n.1034T>G
ENST00000684013.1:n.1034T>G
ENST00000684099.1:n.1030T>G
XM_005248262.2:c.890T>G	XP_005248319.1:p.Val297Gly
XM_005248262.3:c.1043T>G	XP_005248319.2:p.Val348Gly
XM_011513990.1:c.935T>G	XP_011512292.1:p.Val312Gly
XM_017009177.1:c.1043T>G	XP_016864666.1:p.Val348Gly
XM_017009178.1:c.-53T>G	XP_016864667.1:n.-53T>G
XM_017009180.1:c.1043T>G	XP_016864669.1:p.Val348Gly
XM_017009181.1:c.1043T>G	XP_016864670.1:p.Val348Gly
XM_017009182.1:c.1043T>G	XP_016864671.1:p.Val348Gly
XM_017009183.1:c.1043T>G	XP_016864672.1:p.Val348Gly
XM_017009184.1:c.1043T>G	XP_016864673.1:p.Val348Gly
XM_017009187.1:c.1043T>G	XP_016864676.1:p.Val348Gly
XM_024454388.1:c.-1972T>G	XP_024310156.1:n.-1972T>G
XM_024454389.1:c.-1025T>G	XP_024310157.1:n.-1025T>G
XR_001742034.1:n.1060T>G
XR_001742035.1:n.1060T>G
XR_925598.1:n.1142T>G