Canonical Allele Identifier: CA2689798439
Gene: DNAI1 HGNC NCBI

Linked Data

gnomAD v4: 9-34514355-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34514355C>T , CM000671.2:g.34514355C>T GRCh38
NC_000009.11:g.34514353C>T , CM000671.1:g.34514353C>T GRCh37
NC_000009.10:g.34504353C>T NCBI36
NG_008127.1:g.60543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1570-39C>T MANE Select ENSP00000242317.4:n.1570-39C>T
ENST00000242317.8:c.1570-39C>T ENSP00000242317.4:n.1570-39C>T
ENST00000442556.1:c.81-39C>T
ENST00000470169.5:c.507-285C>T
ENST00000485580.1:n.49-39C>T
ENST00000614641.4:c.1582-39C>T ENSP00000480538.1:n.1582-39C>T
NM_001281428.1:c.1582-39C>T NP_001268357.1:n.1582-39C>T
NM_012144.3:c.1570-39C>T NP_036276.1:n.1570-39C>T
XM_006716758.2:c.1039-39C>T XP_006716821.1:n.1039-39C>T
XM_011517846.1:c.1582-39C>T XP_011516148.1:n.1582-39C>T
XM_011517847.1:c.1582-39C>T XP_011516149.1:n.1582-39C>T
XM_011517848.1:c.1324-39C>T XP_011516150.1:n.1324-39C>T
XM_011517849.1:c.1582-149C>T XP_011516151.1:n.1582-149C>T
XR_929232.1:n.1836-149C>T
XR_929233.1:n.1836-149C>T
XR_929235.1:n.1578-149C>T
XM_006716758.3:c.1039-39C>T XP_006716821.1:n.1039-39C>T
XM_011517846.2:c.1582-39C>T XP_011516148.1:n.1582-39C>T
XM_011517847.3:c.1582-39C>T XP_011516149.1:n.1582-39C>T
XM_011517848.2:c.1324-39C>T XP_011516150.1:n.1324-39C>T
XM_011517849.2:c.1582-149C>T XP_011516151.1:n.1582-149C>T
XM_017014625.2:c.1312-39C>T XP_016870114.1:n.1312-39C>T
XR_002956774.1:n.1783-149C>T
XR_929232.2:n.1783-149C>T
XR_929233.2:n.1783-149C>T
NM_012144.4:c.1570-39C>T MANE Select NP_036276.1:n.1570-39C>T
NM_001281428.2:c.1582-39C>T NP_001268357.1:n.1582-39C>T