Canonical Allele Identifier: CA3202915
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 238987
ClinVar RCV Id: RCV000232132 RCV001731458
dbSNP Id: rs775946081
ExAC: 5:13793819 G / A
gnomAD v2: 5-13793819-G-A
gnomAD v3: 5-13793710-G-A
gnomAD v4: 5-13793710-G-A
COSMIC: COSM5515038
MyVariant Identifiers: chr5:g.13793819G>A (hg19) chr5:g.13793710G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793710G>A , CM000667.2:g.13793710G>A GRCh38
NC_000005.9:g.13793819G>A , CM000667.1:g.13793819G>A GRCh37
NC_000005.8:g.13846819G>A NCBI36
NG_013081.1:g.155771C>T
NG_013081.2:g.155771C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.8029C>T MANE Select ENSP00000265104.4:p.Arg2677Ter
ENST00000681290.1:c.7984C>T ENSP00000505288.1:p.Arg2662Ter
ENST00000265104.4:c.8029C>T ENSP00000265104.4:p.Arg2677Ter
NM_001369.2:c.8029C>T NP_001360.1:p.Arg2677Ter
XM_005248262.2:c.7984C>T XP_005248319.1:p.Arg2662Ter
XM_011513990.1:c.8029C>T XP_011512292.1:p.Arg2677Ter
XR_925598.1:n.8236C>T
XM_005248262.3:c.8137C>T XP_005248319.2:p.Arg2713Ter
XM_017009177.1:c.8137C>T XP_016864666.1:p.Arg2713Ter
XM_017009178.1:c.7042C>T XP_016864667.1:p.Arg2348Ter
XM_017009179.2:c.7042C>T XP_016864668.1:p.Arg2348Ter
XM_017009180.1:c.8137C>T XP_016864669.1:p.Arg2713Ter
XM_017009181.1:c.8137C>T XP_016864670.1:p.Arg2713Ter
XM_017009182.1:c.8137C>T XP_016864671.1:p.Arg2713Ter
XM_017009183.1:c.8137C>T XP_016864672.1:p.Arg2713Ter
XM_017009184.1:c.8137C>T XP_016864673.1:p.Arg2713Ter
XM_017009185.1:c.3226C>T XP_016864674.1:p.Arg1076Ter
XM_017009186.1:c.2779C>T XP_016864675.1:p.Arg927Ter
XM_017009188.1:c.2116C>T XP_016864677.1:p.Arg706Ter
XM_024454388.1:c.7042C>T XP_024310156.1:p.Arg2348Ter
XM_024454389.1:c.6631C>T XP_024310157.1:p.Arg2211Ter
XR_001742034.1:n.8154C>T
XR_001742035.1:n.8154C>T
NM_001369.3:c.8029C>T MANE Select NP_001360.1:p.Arg2677Ter
Search 100 bp 5'
Search 100 bp 3'