Canonical Allele Identifier: CA3201701

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721015C>A , CM000667.2:g.13721015C>A	GRCh38
NC_000005.9:g.13721124C>A , CM000667.1:g.13721124C>A	GRCh37
NC_000005.8:g.13774124C>A	NCBI36
NG_013081.1:g.228466G>T
NG_013081.2:g.228466G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12264G>T MANE Select	NP_001360.1:p.Gln4088His
ENST00000265104.5:c.12264G>T MANE Select	ENSP00000265104.4:p.Gln4088His
NM_001369.2:c.12264G>T	NP_001360.1:p.Gln4088His
ENST00000265104.4:c.12264G>T	ENSP00000265104.4:p.Gln4088His
ENST00000681290.1:c.12219G>T	ENSP00000505288.1:p.Gln4073His
XM_005248262.2:c.12219G>T	XP_005248319.1:p.Gln4073His
XM_005248262.3:c.12372G>T	XP_005248319.2:p.Gln4124His
XM_017009177.1:c.12372G>T	XP_016864666.1:p.Gln4124His
XM_017009178.1:c.11277G>T	XP_016864667.1:p.Gln3759His
XM_017009179.2:c.11277G>T	XP_016864668.1:p.Gln3759His
XM_017009180.1:c.12372G>T	XP_016864669.1:p.Gln4124His
XM_017009185.1:c.7461G>T	XP_016864674.1:p.Gln2487His
XM_017009186.1:c.7014G>T	XP_016864675.1:p.Gln2338His
XM_017009188.1:c.6351G>T	XP_016864677.1:p.Gln2117His
XM_024454388.1:c.11277G>T	XP_024310156.1:p.Gln3759His
XM_024454389.1:c.10866G>T	XP_024310157.1:p.Gln3622His