Canonical Allele Identifier: CA350457313

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209562T>C (hg19) ; chr2:g.215344839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344839T>C , CM000664.2:g.215344839T>C	GRCh38
NC_000002.11:g.216209562T>C , CM000664.1:g.216209562T>C	GRCh37
NC_000002.10:g.215917807T>C	NCBI36
NG_013002.1:g.37884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1288T>C MANE Select	ENSP00000236959.9:p.Ser430Pro
ENST00000236959.13:c.1288T>C	ENSP00000236959.9:p.Ser430Pro
ENST00000426233.1:c.293T>C
ENST00000435675.5:c.1285T>C	ENSP00000415935.1:p.Ser429Pro
ENST00000443953.5:c.*1385T>C	ENSP00000406792.1:n.*1385T>C
ENST00000446622.5:n.368T>C
ENST00000459796.1:n.99T>C
ENST00000467388.1:n.200T>C
ENST00000479093.5:n.203T>C
NM_004044.6:c.1288T>C	NP_004035.2:p.Ser430Pro
XM_017004187.2:c.1288T>C	XP_016859676.1:p.Ser430Pro
XM_024452919.1:c.1111T>C	XP_024308687.1:p.Ser371Pro
NM_004044.7:c.1288T>C MANE Select	NP_004035.2:p.Ser430Pro