Canonical Allele Identifier: CA359218421

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727657C>G , CM000667.2:g.13727657C>G	GRCh38
NC_000005.9:g.13727766C>G , CM000667.1:g.13727766C>G	GRCh37
NC_000005.8:g.13780766C>G	NCBI36
NG_013081.1:g.221824G>C
NG_013081.2:g.221824G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11884-1G>C MANE Select	NP_001360.1:n.11884-1G>C
ENST00000265104.5:c.11884-1G>C MANE Select	ENSP00000265104.4:n.11884-1G>C
NM_001369.2:c.11884-1G>C	NP_001360.1:n.11884-1G>C
ENST00000265104.4:c.11884-1G>C	ENSP00000265104.4:n.11884-1G>C
ENST00000681290.1:c.11839-1G>C	ENSP00000505288.1:n.11839-1G>C
XM_005248262.2:c.11839-1G>C	XP_005248319.1:n.11839-1G>C
XM_005248262.3:c.11992-1G>C	XP_005248319.2:n.11992-1G>C
XM_017009177.1:c.11992-1G>C	XP_016864666.1:n.11992-1G>C
XM_017009178.1:c.10897-1G>C	XP_016864667.1:n.10897-1G>C
XM_017009179.2:c.10897-1G>C	XP_016864668.1:n.10897-1G>C
XM_017009180.1:c.11992-1G>C	XP_016864669.1:n.11992-1G>C
XM_017009181.1:c.11870-1G>C	XP_016864670.1:n.11870-1G>C
XM_017009185.1:c.7081-1G>C	XP_016864674.1:n.7081-1G>C
XM_017009186.1:c.6634-1G>C	XP_016864675.1:n.6634-1G>C
XM_017009188.1:c.5971-1G>C	XP_016864677.1:n.5971-1G>C
XM_024454388.1:c.10897-1G>C	XP_024310156.1:n.10897-1G>C
XM_024454389.1:c.10486-1G>C	XP_024310157.1:n.10486-1G>C