Canonical Allele Identifier: CA2662989518

Gene: ATIC

Linked Data

• gnomAD v4: 2-215344697-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344697A>C , CM000664.2:g.215344697A>C	GRCh38
NC_000002.11:g.216209420A>C , CM000664.1:g.216209420A>C	GRCh37
NC_000002.10:g.215917665A>C	NCBI36
NG_013002.1:g.37742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.1228-82A>C MANE Select	ENSP00000236959.9:n.1228-82A>C
ENST00000236959.13:c.1228-82A>C	ENSP00000236959.9:n.1228-82A>C
ENST00000426233.1:c.233-82A>C
ENST00000435675.5:c.1225-82A>C	ENSP00000415935.1:n.1225-82A>C
ENST00000443953.5:c.*1325-82A>C	ENSP00000406792.1:n.*1325-82A>C
ENST00000446622.5:n.308-82A>C
ENST00000459796.1:n.39-82A>C
ENST00000467388.1:n.140-82A>C
ENST00000479093.5:n.143-82A>C
NM_004044.6:c.1228-82A>C	NP_004035.2:n.1228-82A>C
XM_017004187.2:c.1228-82A>C	XP_016859676.1:n.1228-82A>C
XM_024452919.1:c.1051-82A>C	XP_024308687.1:n.1051-82A>C
NM_004044.7:c.1228-82A>C MANE Select	NP_004035.2:n.1228-82A>C