Canonical Allele Identifier: CA3201731

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721156T>G , CM000667.2:g.13721156T>G	GRCh38
NC_000005.9:g.13721265T>G , CM000667.1:g.13721265T>G	GRCh37
NC_000005.8:g.13774265T>G	NCBI36
NG_013081.1:g.228325A>C
NG_013081.2:g.228325A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12123A>C MANE Select	NP_001360.1:p.Pro4041=
ENST00000265104.5:c.12123A>C MANE Select	ENSP00000265104.4:p.Pro4041=
NM_001369.2:c.12123A>C	NP_001360.1:p.Pro4041=
ENST00000265104.4:c.12123A>C	ENSP00000265104.4:p.Pro4041=
ENST00000681290.1:c.12078A>C	ENSP00000505288.1:p.Pro4026=
XM_005248262.2:c.12078A>C	XP_005248319.1:p.Pro4026=
XM_005248262.3:c.12231A>C	XP_005248319.2:p.Pro4077=
XM_017009177.1:c.12231A>C	XP_016864666.1:p.Pro4077=
XM_017009178.1:c.11136A>C	XP_016864667.1:p.Pro3712=
XM_017009179.2:c.11136A>C	XP_016864668.1:p.Pro3712=
XM_017009180.1:c.12231A>C	XP_016864669.1:p.Pro4077=
XM_017009185.1:c.7320A>C	XP_016864674.1:p.Pro2440=
XM_017009186.1:c.6873A>C	XP_016864675.1:p.Pro2291=
XM_017009188.1:c.6210A>C	XP_016864677.1:p.Pro2070=
XM_024454388.1:c.11136A>C	XP_024310156.1:p.Pro3712=
XM_024454389.1:c.10725A>C	XP_024310157.1:p.Pro3575=