Canonical Allele Identifier: CA431152269

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209564T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344841T>A , CM000664.2:g.215344841T>A	GRCh38
NC_000002.11:g.216209564T>A , CM000664.1:g.216209564T>A	GRCh37
NC_000002.10:g.215917809T>A	NCBI36
NG_013002.1:g.37886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.1290T>A MANE Select	ENSP00000236959.9:p.Ser430=
ENST00000236959.13:c.1290T>A	ENSP00000236959.9:p.Ser430=
ENST00000426233.1:c.295T>A
ENST00000435675.5:c.1287T>A	ENSP00000415935.1:p.Ser429=
ENST00000443953.5:c.*1387T>A	ENSP00000406792.1:n.*1387T>A
ENST00000446622.5:n.370T>A
ENST00000459796.1:n.101T>A
ENST00000467388.1:n.202T>A
ENST00000479093.5:n.205T>A
NM_004044.6:c.1290T>A	NP_004035.2:p.Ser430=
XM_017004187.2:c.1290T>A	XP_016859676.1:p.Ser430=
XM_024452919.1:c.1113T>A	XP_024308687.1:p.Ser371=
NM_004044.7:c.1290T>A MANE Select	NP_004035.2:p.Ser430=