Canonical Allele Identifier: CA3202832
Gene: DNAH5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.13792044C>T
GRCh37 chr5:g.13792153C>T
Revel Score:
ENST00000265104 (MANE Select) 0.104
gnomAD v2:
5:13792153 C / T
gnomAD v3:
5:13792044 C / T
gnomAD v4:
chr5-13792044-C-T
Joint Max Group AF 0.00012754 (AMR)
Genomes Max Group AF 0.00030717 (AMR)
Exomes Max Group AF 0.00008301 (NFE)
ClinVar Allele:
455391
ClinVar RCV:
RCV000542977
ClinVar Variation:
454807
dbSNP:
770453841
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13792044C>T , CM000667.2:g.13792044C>T GRCh38
NC_000005.9:g.13792153C>T , CM000667.1:g.13792153C>T GRCh37
NC_000005.8:g.13845153C>T NCBI36
NG_013081.1:g.157437G>A
NG_013081.2:g.157437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8398G>A MANE Select ENSP00000265104.4:p.Val2800Ile
ENST00000681290.1:c.8353G>A ENSP00000505288.1:p.Val2785Ile
ENST00000265104.4:c.8398G>A ENSP00000265104.4:p.Val2800Ile
NM_001369.2:c.8398G>A NP_001360.1:p.Val2800Ile
XM_005248262.2:c.8353G>A XP_005248319.1:p.Val2785Ile
XM_011513990.1:c.8398G>A XP_011512292.1:p.Val2800Ile
XR_925598.1:n.8605G>A
XM_005248262.3:c.8506G>A XP_005248319.2:p.Val2836Ile
XM_017009177.1:c.8506G>A XP_016864666.1:p.Val2836Ile
XM_017009178.1:c.7411G>A XP_016864667.1:p.Val2471Ile
XM_017009179.2:c.7411G>A XP_016864668.1:p.Val2471Ile
XM_017009180.1:c.8506G>A XP_016864669.1:p.Val2836Ile
XM_017009181.1:c.8506G>A XP_016864670.1:p.Val2836Ile
XM_017009182.1:c.8506G>A XP_016864671.1:p.Val2836Ile
XM_017009183.1:c.8506G>A XP_016864672.1:p.Val2836Ile
XM_017009184.1:c.8506G>A XP_016864673.1:p.Val2836Ile
XM_017009185.1:c.3595G>A XP_016864674.1:p.Val1199Ile
XM_017009186.1:c.3148G>A XP_016864675.1:p.Val1050Ile
XM_017009188.1:c.2485G>A XP_016864677.1:p.Val829Ile
XM_024454388.1:c.7411G>A XP_024310156.1:p.Val2471Ile
XM_024454389.1:c.7000G>A XP_024310157.1:p.Val2334Ile
XR_001742034.1:n.8523G>A
XR_001742035.1:n.8523G>A
NM_001369.3:c.8398G>A MANE Select NP_001360.1:p.Val2800Ile
Search 100 bp 5'
Search 100 bp 3'