Canonical Allele Identifier: CA350473452

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216190048C>G (hg19) ; chr2:g.215325325C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325325C>G , CM000664.2:g.215325325C>G	GRCh38
NC_000002.11:g.216190048C>G , CM000664.1:g.216190048C>G	GRCh37
NC_000002.10:g.215898293C>G	NCBI36
NG_013002.1:g.18370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.375C>G MANE Select	ENSP00000236959.9:p.Asp125Glu
ENST00000236959.13:c.375C>G	ENSP00000236959.9:p.Asp125Glu
ENST00000413174.1:c.198C>G	ENSP00000402393.1:p.Asp66Glu
ENST00000427397.5:c.*425C>G	ENSP00000394317.1:n.*425C>G
ENST00000435675.5:c.372C>G	ENSP00000415935.1:p.Asp124Glu
ENST00000443953.5:c.*472C>G	ENSP00000406792.1:n.*472C>G
ENST00000444305.5:c.*53C>G	ENSP00000388675.1:n.*53C>G
ENST00000488712.5:n.587C>G
NM_004044.6:c.375C>G	NP_004035.2:p.Asp125Glu
XM_017004187.2:c.375C>G	XP_016859676.1:p.Asp125Glu
XM_024452919.1:c.198C>G	XP_024308687.1:p.Asp66Glu
NM_004044.7:c.375C>G MANE Select	NP_004035.2:p.Asp125Glu