Canonical Allele Identifier: CA2662989483

Gene: ATIC

Linked Data

• gnomAD v4: 2-215344653-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344653G>T , CM000664.2:g.215344653G>T	GRCh38
NC_000002.11:g.216209376G>T , CM000664.1:g.216209376G>T	GRCh37
NC_000002.10:g.215917621G>T	NCBI36
NG_013002.1:g.37698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.1228-126G>T MANE Select	ENSP00000236959.9:n.1228-126G>T
ENST00000236959.13:c.1228-126G>T	ENSP00000236959.9:n.1228-126G>T
ENST00000426233.1:c.233-126G>T
ENST00000435675.5:c.1225-126G>T	ENSP00000415935.1:n.1225-126G>T
ENST00000443953.5:c.*1325-126G>T	ENSP00000406792.1:n.*1325-126G>T
ENST00000446622.5:n.308-126G>T
ENST00000459796.1:n.39-126G>T
ENST00000467388.1:n.140-126G>T
ENST00000479093.5:n.143-126G>T
NM_004044.6:c.1228-126G>T	NP_004035.2:n.1228-126G>T
XM_017004187.2:c.1228-126G>T	XP_016859676.1:n.1228-126G>T
XM_024452919.1:c.1051-126G>T	XP_024308687.1:n.1051-126G>T
NM_004044.7:c.1228-126G>T MANE Select	NP_004035.2:n.1228-126G>T