Canonical Allele Identifier: CA350473376

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216190025G>A (hg19) ; chr2:g.215325302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325302G>A , CM000664.2:g.215325302G>A	GRCh38
NC_000002.11:g.216190025G>A , CM000664.1:g.216190025G>A	GRCh37
NC_000002.10:g.215898270G>A	NCBI36
NG_013002.1:g.18347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.352G>A MANE Select	ENSP00000236959.9:p.Glu118Lys
ENST00000236959.13:c.352G>A	ENSP00000236959.9:p.Glu118Lys
ENST00000413174.1:c.175G>A	ENSP00000402393.1:p.Glu59Lys
ENST00000427397.5:c.*402G>A	ENSP00000394317.1:n.*402G>A
ENST00000435675.5:c.349G>A	ENSP00000415935.1:p.Glu117Lys
ENST00000443953.5:c.*449G>A	ENSP00000406792.1:n.*449G>A
ENST00000444305.5:c.*30G>A	ENSP00000388675.1:n.*30G>A
ENST00000488712.5:n.564G>A
NM_004044.6:c.352G>A	NP_004035.2:p.Glu118Lys
XM_017004187.2:c.352G>A	XP_016859676.1:p.Glu118Lys
XM_024452919.1:c.175G>A	XP_024308687.1:p.Glu59Lys
NM_004044.7:c.352G>A MANE Select	NP_004035.2:p.Glu118Lys