Canonical Allele Identifier: CA359202700

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13714621C>G , CM000667.2:g.13714621C>G	GRCh38
NC_000005.9:g.13714730C>G , CM000667.1:g.13714730C>G	GRCh37
NC_000005.8:g.13767730C>G	NCBI36
NG_013081.1:g.234860G>C
NG_013081.2:g.234860G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12910-1G>C MANE Select	NP_001360.1:n.12910-1G>C
ENST00000265104.5:c.12910-1G>C MANE Select	ENSP00000265104.4:n.12910-1G>C
NM_001369.2:c.12910-1G>C	NP_001360.1:n.12910-1G>C
ENST00000265104.4:c.12910-1G>C	ENSP00000265104.4:n.12910-1G>C
ENST00000681290.1:c.12865-1G>C	ENSP00000505288.1:n.12865-1G>C
ENST00000683611.1:n.242G>C
XM_005248262.2:c.12865-1G>C	XP_005248319.1:n.12865-1G>C
XM_005248262.3:c.13018-1G>C	XP_005248319.2:n.13018-1G>C
XM_017009177.1:c.12813+2694G>C	XP_016864666.1:n.12813+2694G>C
XM_017009178.1:c.11923-1G>C	XP_016864667.1:n.11923-1G>C
XM_017009179.2:c.11923-1G>C	XP_016864668.1:n.11923-1G>C
XM_017009185.1:c.8107-1G>C	XP_016864674.1:n.8107-1G>C
XM_017009186.1:c.7660-1G>C	XP_016864675.1:n.7660-1G>C
XM_017009188.1:c.6997-1G>C	XP_016864677.1:n.6997-1G>C
XM_024454388.1:c.11923-1G>C	XP_024310156.1:n.11923-1G>C
XM_024454389.1:c.11512-1G>C	XP_024310157.1:n.11512-1G>C