Canonical Allele Identifier: CA350457294

Gene: ATIC

Linked Data

• dbSNP Id: rs1370804349
• gnomAD v4: 2-215344831-A-C
• MyVariant Identifiers: chr2:g.216209554A>C (hg19) ; chr2:g.215344831A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1280A>C MANE Select	ENSP00000236959.9:p.Tyr427Ser
ENST00000236959.13:c.1280A>C	ENSP00000236959.9:p.Tyr427Ser
ENST00000426233.1:c.285A>C
ENST00000435675.5:c.1277A>C	ENSP00000415935.1:p.Tyr426Ser
ENST00000443953.5:c.*1377A>C	ENSP00000406792.1:n.*1377A>C
ENST00000446622.5:n.360A>C
ENST00000459796.1:n.91A>C
ENST00000467388.1:n.192A>C
ENST00000479093.5:n.195A>C
NM_004044.6:c.1280A>C	NP_004035.2:p.Tyr427Ser
XM_017004187.2:c.1280A>C	XP_016859676.1:p.Tyr427Ser
XM_024452919.1:c.1103A>C	XP_024308687.1:p.Tyr368Ser
NM_004044.7:c.1280A>C MANE Select	NP_004035.2:p.Tyr427Ser