Canonical Allele Identifier: CA431152723

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216189973C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325250C>G , CM000664.2:g.215325250C>G	GRCh38
NC_000002.11:g.216189973C>G , CM000664.1:g.216189973C>G	GRCh37
NC_000002.10:g.215898218C>G	NCBI36
NG_013002.1:g.18295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.300C>G MANE Select	ENSP00000236959.9:p.Ala100=
ENST00000236959.13:c.300C>G	ENSP00000236959.9:p.Ala100=
ENST00000413174.1:c.123C>G	ENSP00000402393.1:p.Ala41=
ENST00000427397.5:c.*350C>G	ENSP00000394317.1:n.*350C>G
ENST00000435675.5:c.297C>G	ENSP00000415935.1:p.Ala99=
ENST00000443953.5:c.*397C>G	ENSP00000406792.1:n.*397C>G
ENST00000444305.5:c.233C>G	ENSP00000388675.1:p.Pro78Arg
ENST00000488712.5:n.512C>G
NM_004044.6:c.300C>G	NP_004035.2:p.Ala100=
XM_017004187.2:c.300C>G	XP_016859676.1:p.Ala100=
XM_024452919.1:c.123C>G	XP_024308687.1:p.Ala41=
NM_004044.7:c.300C>G MANE Select	NP_004035.2:p.Ala100=