Canonical Allele Identifier: CA359211726

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13719094C>T , CM000667.2:g.13719094C>T	GRCh38
NC_000005.9:g.13719203C>T , CM000667.1:g.13719203C>T	GRCh37
NC_000005.8:g.13772203C>T	NCBI36
NG_013081.1:g.230387G>A
NG_013081.2:g.230387G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12287G>A MANE Select	NP_001360.1:p.Trp4096Ter
ENST00000265104.5:c.12287G>A MANE Select	ENSP00000265104.4:p.Trp4096Ter
NM_001369.2:c.12287G>A	NP_001360.1:p.Trp4096Ter
ENST00000265104.4:c.12287G>A	ENSP00000265104.4:p.Trp4096Ter
ENST00000681290.1:c.12242G>A	ENSP00000505288.1:p.Trp4081Ter
XM_005248262.2:c.12242G>A	XP_005248319.1:p.Trp4081Ter
XM_005248262.3:c.12395G>A	XP_005248319.2:p.Trp4132Ter
XM_017009177.1:c.12395G>A	XP_016864666.1:p.Trp4132Ter
XM_017009178.1:c.11300G>A	XP_016864667.1:p.Trp3767Ter
XM_017009179.2:c.11300G>A	XP_016864668.1:p.Trp3767Ter
XM_017009180.1:c.12395G>A	XP_016864669.1:p.Trp4132Ter
XM_017009185.1:c.7484G>A	XP_016864674.1:p.Trp2495Ter
XM_017009186.1:c.7037G>A	XP_016864675.1:p.Trp2346Ter
XM_017009188.1:c.6374G>A	XP_016864677.1:p.Trp2125Ter
XM_024454388.1:c.11300G>A	XP_024310156.1:p.Trp3767Ter
XM_024454389.1:c.10889G>A	XP_024310157.1:p.Trp3630Ter