Canonical Allele Identifier: CA1073405789

Gene: DNAH5

Linked Data

• dbSNP Id: rs1752296530
• gnomAD v3: 5-13764853-G-C
• gnomAD v4: 5-13764853-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13764853G>C , CM000667.2:g.13764853G>C	GRCh38
NC_000005.9:g.13764962G>C , CM000667.1:g.13764962G>C	GRCh37
NC_000005.8:g.13817962G>C	NCBI36
NG_013081.1:g.184628C>G
NG_013081.2:g.184628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10101+1123C>G MANE Select	ENSP00000265104.4:n.10101+1123C>G
ENST00000681290.1:c.10056+1123C>G	ENSP00000505288.1:n.10056+1123C>G
ENST00000265104.4:c.10101+1123C>G	ENSP00000265104.4:n.10101+1123C>G
ENST00000504001.3:n.610-1952C>G
NM_001369.2:c.10101+1123C>G	NP_001360.1:n.10101+1123C>G
XM_005248262.2:c.10056+1123C>G	XP_005248319.1:n.10056+1123C>G
XM_005248262.3:c.10209+1123C>G	XP_005248319.2:n.10209+1123C>G
XM_017009177.1:c.10209+1123C>G	XP_016864666.1:n.10209+1123C>G
XM_017009178.1:c.9114+1123C>G	XP_016864667.1:n.9114+1123C>G
XM_017009179.2:c.9114+1123C>G	XP_016864668.1:n.9114+1123C>G
XM_017009180.1:c.10209+1123C>G	XP_016864669.1:n.10209+1123C>G
XM_017009181.1:c.10209+1123C>G	XP_016864670.1:n.10209+1123C>G
XM_017009182.1:c.10209+1123C>G	XP_016864671.1:n.10209+1123C>G
XM_017009185.1:c.5298+1123C>G	XP_016864674.1:n.5298+1123C>G
XM_017009186.1:c.4851+1123C>G	XP_016864675.1:n.4851+1123C>G
XM_017009188.1:c.4188+1123C>G	XP_016864677.1:n.4188+1123C>G
XM_024454388.1:c.9114+1123C>G	XP_024310156.1:n.9114+1123C>G
XM_024454389.1:c.8703+1123C>G	XP_024310157.1:n.8703+1123C>G
NM_001369.3:c.10101+1123C>G MANE Select	NP_001360.1:n.10101+1123C>G