Canonical Allele Identifier: CA3201476

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13714512G>A , CM000667.2:g.13714512G>A	GRCh38
NC_000005.9:g.13714621G>A , CM000667.1:g.13714621G>A	GRCh37
NC_000005.8:g.13767621G>A	NCBI36
NG_013081.1:g.234969C>T
NG_013081.2:g.234969C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13018C>T MANE Select	NP_001360.1:p.Gln4340Ter
ENST00000265104.5:c.13018C>T MANE Select	ENSP00000265104.4:p.Gln4340Ter
NM_001369.2:c.13018C>T	NP_001360.1:p.Gln4340Ter
ENST00000265104.4:c.13018C>T	ENSP00000265104.4:p.Gln4340Ter
ENST00000681290.1:c.12973C>T	ENSP00000505288.1:p.Gln4325Ter
ENST00000683611.1:n.351C>T
XM_005248262.2:c.12973C>T	XP_005248319.1:p.Gln4325Ter
XM_005248262.3:c.13126C>T	XP_005248319.2:p.Gln4376Ter
XM_017009177.1:c.12813+2803C>T	XP_016864666.1:n.12813+2803C>T
XM_017009178.1:c.12031C>T	XP_016864667.1:p.Gln4011Ter
XM_017009179.2:c.12031C>T	XP_016864668.1:p.Gln4011Ter
XM_017009185.1:c.8215C>T	XP_016864674.1:p.Gln2739Ter
XM_017009186.1:c.7768C>T	XP_016864675.1:p.Gln2590Ter
XM_017009188.1:c.7105C>T	XP_016864677.1:p.Gln2369Ter
XM_024454388.1:c.12031C>T	XP_024310156.1:p.Gln4011Ter
XM_024454389.1:c.11620C>T	XP_024310157.1:p.Gln3874Ter