Canonical Allele Identifier: CA350457309

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209560A>T (hg19) ; chr2:g.215344837A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344837A>T , CM000664.2:g.215344837A>T	GRCh38
NC_000002.11:g.216209560A>T , CM000664.1:g.216209560A>T	GRCh37
NC_000002.10:g.215917805A>T	NCBI36
NG_013002.1:g.37882A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1286A>T MANE Select	ENSP00000236959.9:p.Gln429Leu
ENST00000236959.13:c.1286A>T	ENSP00000236959.9:p.Gln429Leu
ENST00000426233.1:c.291A>T
ENST00000435675.5:c.1283A>T	ENSP00000415935.1:p.Gln428Leu
ENST00000443953.5:c.*1383A>T	ENSP00000406792.1:n.*1383A>T
ENST00000446622.5:n.366A>T
ENST00000459796.1:n.97A>T
ENST00000467388.1:n.198A>T
ENST00000479093.5:n.201A>T
NM_004044.6:c.1286A>T	NP_004035.2:p.Gln429Leu
XM_017004187.2:c.1286A>T	XP_016859676.1:p.Gln429Leu
XM_024452919.1:c.1109A>T	XP_024308687.1:p.Gln370Leu
NM_004044.7:c.1286A>T MANE Select	NP_004035.2:p.Gln429Leu