Canonical Allele Identifier: CA764595207

Gene: ATIC

Linked Data

• dbSNP Id: rs1352098015
• gnomAD v4: 2-215325101-A-C
• MyVariant Identifiers: chr2:g.216189824A>C (hg19) ; chr2:g.215325101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325101A>C , CM000664.2:g.215325101A>C	GRCh38
NC_000002.11:g.216189824A>C , CM000664.1:g.216189824A>C	GRCh37
NC_000002.10:g.215898069A>C	NCBI36
NG_013002.1:g.18146A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.291-140A>C MANE Select	ENSP00000236959.9:n.291-140A>C
ENST00000236959.13:c.291-140A>C	ENSP00000236959.9:n.291-140A>C
ENST00000413174.1:c.114-140A>C	ENSP00000402393.1:n.114-140A>C
ENST00000427397.5:c.*341-140A>C	ENSP00000394317.1:n.*341-140A>C
ENST00000435675.5:c.288-140A>C	ENSP00000415935.1:n.288-140A>C
ENST00000443953.5:c.*388-140A>C	ENSP00000406792.1:n.*388-140A>C
ENST00000444305.5:c.224-140A>C	ENSP00000388675.1:n.224-140A>C
ENST00000488712.5:n.442-79A>C
NM_004044.6:c.291-140A>C	NP_004035.2:n.291-140A>C
XM_017004187.2:c.291-140A>C	XP_016859676.1:n.291-140A>C
XM_024452919.1:c.114-140A>C	XP_024308687.1:n.114-140A>C
NM_004044.7:c.291-140A>C MANE Select	NP_004035.2:n.291-140A>C