Canonical Allele Identifier: CA350473450

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216190047A>T (hg19) ; chr2:g.215325324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325324A>T , CM000664.2:g.215325324A>T	GRCh38
NC_000002.11:g.216190047A>T , CM000664.1:g.216190047A>T	GRCh37
NC_000002.10:g.215898292A>T	NCBI36
NG_013002.1:g.18369A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.374A>T MANE Select	ENSP00000236959.9:p.Asp125Val
ENST00000236959.13:c.374A>T	ENSP00000236959.9:p.Asp125Val
ENST00000413174.1:c.197A>T	ENSP00000402393.1:p.Asp66Val
ENST00000427397.5:c.*424A>T	ENSP00000394317.1:n.*424A>T
ENST00000435675.5:c.371A>T	ENSP00000415935.1:p.Asp124Val
ENST00000443953.5:c.*471A>T	ENSP00000406792.1:n.*471A>T
ENST00000444305.5:c.*52A>T	ENSP00000388675.1:n.*52A>T
ENST00000488712.5:n.586A>T
NM_004044.6:c.374A>T	NP_004035.2:p.Asp125Val
XM_017004187.2:c.374A>T	XP_016859676.1:p.Asp125Val
XM_024452919.1:c.197A>T	XP_024308687.1:p.Asp66Val
NM_004044.7:c.374A>T MANE Select	NP_004035.2:p.Asp125Val