Canonical Allele Identifier: CA2673268379

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13771118-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13771118C>G , CM000667.2:g.13771118C>G	GRCh38
NC_000005.9:g.13771227C>G , CM000667.1:g.13771227C>G	GRCh37
NC_000005.8:g.13824227C>G	NCBI36
NG_013081.1:g.178363G>C
NG_013081.2:g.178363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9374-138G>C MANE Select	ENSP00000265104.4:n.9374-138G>C
ENST00000681290.1:c.9329-138G>C	ENSP00000505288.1:n.9329-138G>C
ENST00000265104.4:c.9374-138G>C	ENSP00000265104.4:n.9374-138G>C
ENST00000504001.3:n.85+80G>C
NM_001369.2:c.9374-138G>C	NP_001360.1:n.9374-138G>C
XM_005248262.2:c.9329-138G>C	XP_005248319.1:n.9329-138G>C
XM_005248262.3:c.9482-138G>C	XP_005248319.2:n.9482-138G>C
XM_017009177.1:c.9482-138G>C	XP_016864666.1:n.9482-138G>C
XM_017009178.1:c.8387-138G>C	XP_016864667.1:n.8387-138G>C
XM_017009179.2:c.8387-138G>C	XP_016864668.1:n.8387-138G>C
XM_017009180.1:c.9482-138G>C	XP_016864669.1:n.9482-138G>C
XM_017009181.1:c.9482-138G>C	XP_016864670.1:n.9482-138G>C
XM_017009182.1:c.9482-138G>C	XP_016864671.1:n.9482-138G>C
XM_017009183.1:c.9482-138G>C	XP_016864672.1:n.9482-138G>C
XM_017009185.1:c.4571-138G>C	XP_016864674.1:n.4571-138G>C
XM_017009186.1:c.4124-138G>C	XP_016864675.1:n.4124-138G>C
XM_017009188.1:c.3461-138G>C	XP_016864677.1:n.3461-138G>C
XM_024454388.1:c.8387-138G>C	XP_024310156.1:n.8387-138G>C
XM_024454389.1:c.7976-138G>C	XP_024310157.1:n.7976-138G>C
NM_001369.3:c.9374-138G>C MANE Select	NP_001360.1:n.9374-138G>C