Canonical Allele Identifier: CA350457295

Gene: ATIC

Linked Data

• dbSNP Id: rs1370804349
• MyVariant Identifiers: chr2:g.216209554A>G (hg19) ; chr2:g.215344831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344831A>G , CM000664.2:g.215344831A>G	GRCh38
NC_000002.11:g.216209554A>G , CM000664.1:g.216209554A>G	GRCh37
NC_000002.10:g.215917799A>G	NCBI36
NG_013002.1:g.37876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1280A>G MANE Select	ENSP00000236959.9:p.Tyr427Cys
ENST00000236959.13:c.1280A>G	ENSP00000236959.9:p.Tyr427Cys
ENST00000426233.1:c.285A>G
ENST00000435675.5:c.1277A>G	ENSP00000415935.1:p.Tyr426Cys
ENST00000443953.5:c.*1377A>G	ENSP00000406792.1:n.*1377A>G
ENST00000446622.5:n.360A>G
ENST00000459796.1:n.91A>G
ENST00000467388.1:n.192A>G
ENST00000479093.5:n.195A>G
NM_004044.6:c.1280A>G	NP_004035.2:p.Tyr427Cys
XM_017004187.2:c.1280A>G	XP_016859676.1:p.Tyr427Cys
XM_024452919.1:c.1103A>G	XP_024308687.1:p.Tyr368Cys
NM_004044.7:c.1280A>G MANE Select	NP_004035.2:p.Tyr427Cys