Canonical Allele Identifier: CA431152266
Gene: ATIC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.216209558T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215344835T>A , CM000664.2:g.215344835T>A GRCh38
NC_000002.11:g.216209558T>A , CM000664.1:g.216209558T>A GRCh37
NC_000002.10:g.215917803T>A NCBI36
NG_013002.1:g.37880T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236959.14:c.1284T>A MANE Select ENSP00000236959.9:p.Thr428=
ENST00000236959.13:c.1284T>A ENSP00000236959.9:p.Thr428=
ENST00000426233.1:c.289T>A
ENST00000435675.5:c.1281T>A ENSP00000415935.1:p.Thr427=
ENST00000443953.5:c.*1381T>A ENSP00000406792.1:n.*1381T>A
ENST00000446622.5:n.364T>A
ENST00000459796.1:n.95T>A
ENST00000467388.1:n.196T>A
ENST00000479093.5:n.199T>A
NM_004044.6:c.1284T>A NP_004035.2:p.Thr428=
XM_017004187.2:c.1284T>A XP_016859676.1:p.Thr428=
XM_024452919.1:c.1107T>A XP_024308687.1:p.Thr369=
NM_004044.7:c.1284T>A MANE Select NP_004035.2:p.Thr428=