Canonical Allele Identifier: CA359195655

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13823293G>T , CM000667.2:g.13823293G>T	GRCh38
NC_000005.9:g.13823402G>T , CM000667.1:g.13823402G>T	GRCh37
NC_000005.8:g.13876402G>T	NCBI36
NG_013081.1:g.126188C>A
NG_013081.2:g.126188C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6657C>A MANE Select	NP_001360.1:p.Tyr2219Ter
ENST00000265104.5:c.6657C>A MANE Select	ENSP00000265104.4:p.Tyr2219Ter
NM_001369.2:c.6657C>A	NP_001360.1:p.Tyr2219Ter
ENST00000265104.4:c.6657C>A	ENSP00000265104.4:p.Tyr2219Ter
ENST00000681290.1:c.6612C>A	ENSP00000505288.1:p.Tyr2204Ter
ENST00000683090.1:n.1588C>A
XM_005248262.2:c.6612C>A	XP_005248319.1:p.Tyr2204Ter
XM_005248262.3:c.6765C>A	XP_005248319.2:p.Tyr2255Ter
XM_011513990.1:c.6657C>A	XP_011512292.1:p.Tyr2219Ter
XM_017009177.1:c.6765C>A	XP_016864666.1:p.Tyr2255Ter
XM_017009178.1:c.5670C>A	XP_016864667.1:p.Tyr1890Ter
XM_017009179.2:c.5670C>A	XP_016864668.1:p.Tyr1890Ter
XM_017009180.1:c.6765C>A	XP_016864669.1:p.Tyr2255Ter
XM_017009181.1:c.6765C>A	XP_016864670.1:p.Tyr2255Ter
XM_017009182.1:c.6765C>A	XP_016864671.1:p.Tyr2255Ter
XM_017009183.1:c.6765C>A	XP_016864672.1:p.Tyr2255Ter
XM_017009184.1:c.6765C>A	XP_016864673.1:p.Tyr2255Ter
XM_017009185.1:c.1854C>A	XP_016864674.1:p.Tyr618Ter
XM_017009186.1:c.1407C>A	XP_016864675.1:p.Tyr469Ter
XM_017009187.1:c.6765C>A	XP_016864676.1:p.Tyr2255Ter
XM_017009188.1:c.744C>A	XP_016864677.1:p.Tyr248Ter
XM_024454388.1:c.5670C>A	XP_024310156.1:p.Tyr1890Ter
XM_024454389.1:c.5259C>A	XP_024310157.1:p.Tyr1753Ter
XR_001742034.1:n.6782C>A
XR_001742035.1:n.6782C>A
XR_925598.1:n.6864C>A