Canonical Allele Identifier: CA350457287

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209551A>C (hg19) ; chr2:g.215344828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344828A>C , CM000664.2:g.215344828A>C	GRCh38
NC_000002.11:g.216209551A>C , CM000664.1:g.216209551A>C	GRCh37
NC_000002.10:g.215917796A>C	NCBI36
NG_013002.1:g.37873A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1277A>C MANE Select	ENSP00000236959.9:p.Lys426Thr
ENST00000236959.13:c.1277A>C	ENSP00000236959.9:p.Lys426Thr
ENST00000426233.1:c.282A>C
ENST00000435675.5:c.1274A>C	ENSP00000415935.1:p.Lys425Thr
ENST00000443953.5:c.*1374A>C	ENSP00000406792.1:n.*1374A>C
ENST00000446622.5:n.357A>C
ENST00000459796.1:n.88A>C
ENST00000467388.1:n.189A>C
ENST00000479093.5:n.192A>C
NM_004044.6:c.1277A>C	NP_004035.2:p.Lys426Thr
XM_017004187.2:c.1277A>C	XP_016859676.1:p.Lys426Thr
XM_024452919.1:c.1100A>C	XP_024308687.1:p.Lys367Thr
NM_004044.7:c.1277A>C MANE Select	NP_004035.2:p.Lys426Thr