Canonical Allele Identifier: CA3202253

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13758866G>A , CM000667.2:g.13758866G>A	GRCh38
NC_000005.9:g.13758975G>A , CM000667.1:g.13758975G>A	GRCh37
NC_000005.8:g.13811975G>A	NCBI36
NG_013081.1:g.190615C>T
NG_013081.2:g.190615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10399C>T MANE Select	NP_001360.1:p.Gln3467Ter
ENST00000265104.5:c.10399C>T MANE Select	ENSP00000265104.4:p.Gln3467Ter
NM_001369.2:c.10399C>T	NP_001360.1:p.Gln3467Ter
ENST00000265104.4:c.10399C>T	ENSP00000265104.4:p.Gln3467Ter
ENST00000681290.1:c.10354C>T	ENSP00000505288.1:p.Gln3452Ter
XM_005248262.2:c.10354C>T	XP_005248319.1:p.Gln3452Ter
XM_005248262.3:c.10507C>T	XP_005248319.2:p.Gln3503Ter
XM_017009177.1:c.10507C>T	XP_016864666.1:p.Gln3503Ter
XM_017009178.1:c.9412C>T	XP_016864667.1:p.Gln3138Ter
XM_017009179.2:c.9412C>T	XP_016864668.1:p.Gln3138Ter
XM_017009180.1:c.10507C>T	XP_016864669.1:p.Gln3503Ter
XM_017009181.1:c.10507C>T	XP_016864670.1:p.Gln3503Ter
XM_017009182.1:c.10507C>T	XP_016864671.1:p.Gln3503Ter
XM_017009185.1:c.5596C>T	XP_016864674.1:p.Gln1866Ter
XM_017009186.1:c.5149C>T	XP_016864675.1:p.Gln1717Ter
XM_017009188.1:c.4486C>T	XP_016864677.1:p.Gln1496Ter
XM_024454388.1:c.9412C>T	XP_024310156.1:p.Gln3138Ter
XM_024454389.1:c.9001C>T	XP_024310157.1:p.Gln3001Ter