Canonical Allele Identifier: CA373257499
Gene: DNAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3084246
ClinVar RCV Id: RCV004379126
dbSNP Id: rs1824942877
gnomAD v4: 9-34506828-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506828T>C , CM000671.2:g.34506828T>C GRCh38
NC_000009.11:g.34506826T>C , CM000671.1:g.34506826T>C GRCh37
NC_000009.10:g.34496826T>C NCBI36
NG_008127.1:g.53016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1265T>C MANE Select ENSP00000242317.4:p.Phe422Ser
ENST00000242317.8:c.1265T>C ENSP00000242317.4:p.Phe422Ser
ENST00000470169.5:c.202T>C
ENST00000614641.4:c.1277T>C ENSP00000480538.1:p.Phe426Ser
NM_001281428.1:c.1277T>C NP_001268357.1:p.Phe426Ser
NM_012144.3:c.1265T>C NP_036276.1:p.Phe422Ser
XM_006716758.2:c.734T>C XP_006716821.1:p.Phe245Ser
XM_011517846.1:c.1277T>C XP_011516148.1:p.Phe426Ser
XM_011517847.1:c.1277T>C XP_011516149.1:p.Phe426Ser
XM_011517848.1:c.1277T>C XP_011516150.1:p.Phe426Ser
XM_011517849.1:c.1277T>C XP_011516151.1:p.Phe426Ser
XM_011517850.1:c.1277T>C XP_011516152.1:p.Phe426Ser
XR_929232.1:n.1531T>C
XR_929233.1:n.1531T>C
XR_929235.1:n.1531T>C
XM_006716758.3:c.734T>C XP_006716821.1:p.Phe245Ser
XM_011517846.2:c.1277T>C XP_011516148.1:p.Phe426Ser
XM_011517847.3:c.1277T>C XP_011516149.1:p.Phe426Ser
XM_011517848.2:c.1277T>C XP_011516150.1:p.Phe426Ser
XM_011517849.2:c.1277T>C XP_011516151.1:p.Phe426Ser
XM_011517850.3:c.1277T>C XP_011516152.1:p.Phe426Ser
XM_017014625.2:c.1265T>C XP_016870114.1:p.Phe422Ser
XR_002956774.1:n.1478T>C
XR_929232.2:n.1478T>C
XR_929233.2:n.1478T>C
NM_012144.4:c.1265T>C MANE Select NP_036276.1:p.Phe422Ser
NM_001281428.2:c.1277T>C NP_001268357.1:p.Phe426Ser