Canonical Allele Identifier: CA350457305

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209559C>G (hg19) ; chr2:g.215344836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344836C>G , CM000664.2:g.215344836C>G	GRCh38
NC_000002.11:g.216209559C>G , CM000664.1:g.216209559C>G	GRCh37
NC_000002.10:g.215917804C>G	NCBI36
NG_013002.1:g.37881C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1285C>G MANE Select	ENSP00000236959.9:p.Gln429Glu
ENST00000236959.13:c.1285C>G	ENSP00000236959.9:p.Gln429Glu
ENST00000426233.1:c.290C>G
ENST00000435675.5:c.1282C>G	ENSP00000415935.1:p.Gln428Glu
ENST00000443953.5:c.*1382C>G	ENSP00000406792.1:n.*1382C>G
ENST00000446622.5:n.365C>G
ENST00000459796.1:n.96C>G
ENST00000467388.1:n.197C>G
ENST00000479093.5:n.200C>G
NM_004044.6:c.1285C>G	NP_004035.2:p.Gln429Glu
XM_017004187.2:c.1285C>G	XP_016859676.1:p.Gln429Glu
XM_024452919.1:c.1108C>G	XP_024308687.1:p.Gln370Glu
NM_004044.7:c.1285C>G MANE Select	NP_004035.2:p.Gln429Glu