Canonical Allele Identifier: CA338247
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 216085
ClinVar RCV Id: RCV000198869
dbSNP Id: rs863224504
gnomAD v2: 5-13770961-G-A
gnomAD v3: 5-13770852-G-A
gnomAD v4: 5-13770852-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770852G>A , CM000667.2:g.13770852G>A GRCh38
NC_000005.9:g.13770961G>A , CM000667.1:g.13770961G>A GRCh37
NC_000005.8:g.13823961G>A NCBI36
NG_013081.1:g.178629C>T
NG_013081.2:g.178629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9502C>T MANE Select ENSP00000265104.4:p.Arg3168Ter
ENST00000681290.1:c.9457C>T ENSP00000505288.1:p.Arg3153Ter
ENST00000265104.4:c.9502C>T ENSP00000265104.4:p.Arg3168Ter
ENST00000504001.3:n.214C>T
NM_001369.2:c.9502C>T NP_001360.1:p.Arg3168Ter
XM_005248262.2:c.9457C>T XP_005248319.1:p.Arg3153Ter
XM_005248262.3:c.9610C>T XP_005248319.2:p.Arg3204Ter
XM_017009177.1:c.9610C>T XP_016864666.1:p.Arg3204Ter
XM_017009178.1:c.8515C>T XP_016864667.1:p.Arg2839Ter
XM_017009179.2:c.8515C>T XP_016864668.1:p.Arg2839Ter
XM_017009180.1:c.9610C>T XP_016864669.1:p.Arg3204Ter
XM_017009181.1:c.9610C>T XP_016864670.1:p.Arg3204Ter
XM_017009182.1:c.9610C>T XP_016864671.1:p.Arg3204Ter
XM_017009183.1:c.9610C>T XP_016864672.1:p.Arg3204Ter
XM_017009185.1:c.4699C>T XP_016864674.1:p.Arg1567Ter
XM_017009186.1:c.4252C>T XP_016864675.1:p.Arg1418Ter
XM_017009188.1:c.3589C>T XP_016864677.1:p.Arg1197Ter
XM_024454388.1:c.8515C>T XP_024310156.1:p.Arg2839Ter
XM_024454389.1:c.8104C>T XP_024310157.1:p.Arg2702Ter
NM_001369.3:c.9502C>T MANE Select NP_001360.1:p.Arg3168Ter