Canonical Allele Identifier: CA431152275

Gene: ATIC

Linked Data

• dbSNP Id: rs1333416801
• gnomAD v2: 2-216209573-G-A
• gnomAD v3: 2-215344850-G-A
• gnomAD v4: 2-215344850-G-A
• MyVariant Identifiers: chr2:g.216209573G>A (hg19) ; chr2:g.215344850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344850G>A , CM000664.2:g.215344850G>A	GRCh38
NC_000002.11:g.216209573G>A , CM000664.1:g.216209573G>A	GRCh37
NC_000002.10:g.215917818G>A	NCBI36
NG_013002.1:g.37895G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1299G>A MANE Select	ENSP00000236959.9:p.Val433=
ENST00000236959.13:c.1299G>A	ENSP00000236959.9:p.Val433=
ENST00000426233.1:c.304G>A
ENST00000435675.5:c.1296G>A	ENSP00000415935.1:p.Val432=
ENST00000443953.5:c.*1396G>A	ENSP00000406792.1:n.*1396G>A
ENST00000446622.5:n.379G>A
ENST00000459796.1:n.110G>A
ENST00000467388.1:n.211G>A
ENST00000479093.5:n.214G>A
NM_004044.6:c.1299G>A	NP_004035.2:p.Val433=
XM_017004187.2:c.1299G>A	XP_016859676.1:p.Val433=
XM_024452919.1:c.1122G>A	XP_024308687.1:p.Val374=
NM_004044.7:c.1299G>A MANE Select	NP_004035.2:p.Val433=