Canonical Allele Identifier: CA359212040

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911461G>C , CM000667.2:g.13911461G>C	GRCh38
NC_000005.9:g.13911570G>C , CM000667.1:g.13911570G>C	GRCh37
NC_000005.8:g.13964570G>C	NCBI36
NG_013081.1:g.38020C>G
NG_013081.2:g.38020C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1569C>G MANE Select	NP_001360.1:p.Tyr523Ter
ENST00000265104.5:c.1569C>G MANE Select	ENSP00000265104.4:p.Tyr523Ter
NM_001369.2:c.1569C>G	NP_001360.1:p.Tyr523Ter
ENST00000265104.4:c.1569C>G	ENSP00000265104.4:p.Tyr523Ter
ENST00000508040.1:n.1977C>G
ENST00000680213.1:c.1329C>G	ENSP00000506622.1:p.Tyr443Ter
ENST00000680213.2:n.1625C>G
ENST00000681290.1:c.1524C>G	ENSP00000505288.1:p.Tyr508Ter
ENST00000683011.1:n.1508C>G
ENST00000683967.1:n.3934C>G
ENST00000684013.1:n.2229C>G
ENST00000684099.1:n.2225C>G
XM_005248262.2:c.1524C>G	XP_005248319.1:p.Tyr508Ter
XM_005248262.3:c.1677C>G	XP_005248319.2:p.Tyr559Ter
XM_011513990.1:c.1569C>G	XP_011512292.1:p.Tyr523Ter
XM_017009177.1:c.1677C>G	XP_016864666.1:p.Tyr559Ter
XM_017009178.1:c.582C>G	XP_016864667.1:p.Tyr194Ter
XM_017009179.2:c.582C>G	XP_016864668.1:p.Tyr194Ter
XM_017009180.1:c.1677C>G	XP_016864669.1:p.Tyr559Ter
XM_017009181.1:c.1677C>G	XP_016864670.1:p.Tyr559Ter
XM_017009182.1:c.1677C>G	XP_016864671.1:p.Tyr559Ter
XM_017009183.1:c.1677C>G	XP_016864672.1:p.Tyr559Ter
XM_017009184.1:c.1677C>G	XP_016864673.1:p.Tyr559Ter
XM_017009187.1:c.1677C>G	XP_016864676.1:p.Tyr559Ter
XM_024454388.1:c.582C>G	XP_024310156.1:p.Tyr194Ter
XM_024454389.1:c.171C>G	XP_024310157.1:p.Tyr57Ter
XR_001742034.1:n.1694C>G
XR_001742035.1:n.1694C>G
XR_925598.1:n.1776C>G