Canonical Allele Identifier: CA2662989895

Gene: ATIC

Linked Data

• gnomAD v4: 2-215345423-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215345423T>C , CM000664.2:g.215345423T>C	GRCh38
NC_000002.11:g.216210146T>C , CM000664.1:g.216210146T>C	GRCh37
NC_000002.10:g.215918391T>C	NCBI36
NG_013002.1:g.38468T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1320+552T>C MANE Select	ENSP00000236959.9:n.1320+552T>C
ENST00000236959.13:c.1320+552T>C	ENSP00000236959.9:n.1320+552T>C
ENST00000426233.1:c.325+552T>C
ENST00000435675.5:c.1317+552T>C	ENSP00000415935.1:n.1317+552T>C
ENST00000443953.5:c.*1417+552T>C	ENSP00000406792.1:n.*1417+552T>C
ENST00000446622.5:n.400+552T>C
ENST00000459796.1:n.683T>C
ENST00000467388.1:n.232+552T>C
ENST00000479093.5:n.235+552T>C
NM_004044.6:c.1320+552T>C	NP_004035.2:n.1320+552T>C
XM_017004187.2:c.1320+552T>C	XP_016859676.1:n.1320+552T>C
XM_024452919.1:c.1143+552T>C	XP_024308687.1:n.1143+552T>C
NM_004044.7:c.1320+552T>C MANE Select	NP_004035.2:n.1320+552T>C