Canonical Allele Identifier: CA373257823
Gene: DNAI1 HGNC NCBI

Linked Data

dbSNP Id: rs1351448161
gnomAD v2: 9-34506869-G-A
MyVariant Identifiers: chr9:g.34506869G>A (hg19) chr9:g.34506871G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506871G>A , CM000671.2:g.34506871G>A GRCh38
NC_000009.11:g.34506869G>A , CM000671.1:g.34506869G>A GRCh37
NC_000009.10:g.34496869G>A NCBI36
NG_008127.1:g.53059G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000242317.9:c.1308G>A MANE Select ENSP00000242317.4:p.Trp436Ter
ENST00000242317.8:c.1308G>A ENSP00000242317.4:p.Trp436Ter
ENST00000470169.5:c.245G>A
ENST00000614641.4:c.1320G>A ENSP00000480538.1:p.Trp440Ter
NM_001281428.1:c.1320G>A NP_001268357.1:p.Trp440Ter
NM_012144.3:c.1308G>A NP_036276.1:p.Trp436Ter
XM_006716758.2:c.777G>A XP_006716821.1:p.Trp259Ter
XM_011517846.1:c.1320G>A XP_011516148.1:p.Trp440Ter
XM_011517847.1:c.1320G>A XP_011516149.1:p.Trp440Ter
XM_011517848.1:c.1320G>A XP_011516150.1:p.Trp440Ter
XM_011517849.1:c.1320G>A XP_011516151.1:p.Trp440Ter
XM_011517850.1:c.1320G>A XP_011516152.1:p.Trp440Ter
XR_929232.1:n.1574G>A
XR_929233.1:n.1574G>A
XR_929235.1:n.1574G>A
XM_006716758.3:c.777G>A XP_006716821.1:p.Trp259Ter
XM_011517846.2:c.1320G>A XP_011516148.1:p.Trp440Ter
XM_011517847.3:c.1320G>A XP_011516149.1:p.Trp440Ter
XM_011517848.2:c.1320G>A XP_011516150.1:p.Trp440Ter
XM_011517849.2:c.1320G>A XP_011516151.1:p.Trp440Ter
XM_011517850.3:c.1320G>A XP_011516152.1:p.Trp440Ter
XM_017014625.2:c.1308G>A XP_016870114.1:p.Trp436Ter
XR_002956774.1:n.1521G>A
XR_929232.2:n.1521G>A
XR_929233.2:n.1521G>A
NM_012144.4:c.1308G>A MANE Select NP_036276.1:p.Trp436Ter
NM_001281428.2:c.1320G>A NP_001268357.1:p.Trp440Ter
Search 100 bp 5'
Search 100 bp 3'