Canonical Allele Identifier: CA539531721

Gene: ATIC

Linked Data

• dbSNP Id: rs1375817831
• gnomAD v2: 2-216189947-T-A
• gnomAD v4: 2-215325224-T-A
• MyVariant Identifiers: chr2:g.216189947T>A (hg19) ; chr2:g.215325224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325224T>A , CM000664.2:g.215325224T>A	GRCh38
NC_000002.11:g.216189947T>A , CM000664.1:g.216189947T>A	GRCh37
NC_000002.10:g.215898192T>A	NCBI36
NG_013002.1:g.18269T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.291-17T>A MANE Select	ENSP00000236959.9:n.291-17T>A
ENST00000236959.13:c.291-17T>A	ENSP00000236959.9:n.291-17T>A
ENST00000413174.1:c.114-17T>A	ENSP00000402393.1:n.114-17T>A
ENST00000427397.5:c.*341-17T>A	ENSP00000394317.1:n.*341-17T>A
ENST00000435675.5:c.288-17T>A	ENSP00000415935.1:n.288-17T>A
ENST00000443953.5:c.*388-17T>A	ENSP00000406792.1:n.*388-17T>A
ENST00000444305.5:c.224-17T>A	ENSP00000388675.1:n.224-17T>A
ENST00000488712.5:n.486T>A
NM_004044.6:c.291-17T>A	NP_004035.2:n.291-17T>A
XM_017004187.2:c.291-17T>A	XP_016859676.1:n.291-17T>A
XM_024452919.1:c.114-17T>A	XP_024308687.1:n.114-17T>A
NM_004044.7:c.291-17T>A MANE Select	NP_004035.2:n.291-17T>A