Canonical Allele Identifier: CA350457315

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209563C>A (hg19) ; chr2:g.215344840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344840C>A , CM000664.2:g.215344840C>A	GRCh38
NC_000002.11:g.216209563C>A , CM000664.1:g.216209563C>A	GRCh37
NC_000002.10:g.215917808C>A	NCBI36
NG_013002.1:g.37885C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1289C>A MANE Select	ENSP00000236959.9:p.Ser430Tyr
ENST00000236959.13:c.1289C>A	ENSP00000236959.9:p.Ser430Tyr
ENST00000426233.1:c.294C>A
ENST00000435675.5:c.1286C>A	ENSP00000415935.1:p.Ser429Tyr
ENST00000443953.5:c.*1386C>A	ENSP00000406792.1:n.*1386C>A
ENST00000446622.5:n.369C>A
ENST00000459796.1:n.100C>A
ENST00000467388.1:n.201C>A
ENST00000479093.5:n.204C>A
NM_004044.6:c.1289C>A	NP_004035.2:p.Ser430Tyr
XM_017004187.2:c.1289C>A	XP_016859676.1:p.Ser430Tyr
XM_024452919.1:c.1112C>A	XP_024308687.1:p.Ser371Tyr
NM_004044.7:c.1289C>A MANE Select	NP_004035.2:p.Ser430Tyr