Canonical Allele Identifier: CA64816833

Gene: ATIC

Linked Data

• dbSNP Id: rs747989507
• gnomAD v4: 2-215344840-C-T
• MyVariant Identifiers: chr2:g.216209563C>T (hg19) ; chr2:g.215344840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344840C>T , CM000664.2:g.215344840C>T	GRCh38
NC_000002.11:g.216209563C>T , CM000664.1:g.216209563C>T	GRCh37
NC_000002.10:g.215917808C>T	NCBI36
NG_013002.1:g.37885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1289C>T MANE Select	ENSP00000236959.9:p.Ser430Phe
ENST00000236959.13:c.1289C>T	ENSP00000236959.9:p.Ser430Phe
ENST00000426233.1:c.294C>T
ENST00000435675.5:c.1286C>T	ENSP00000415935.1:p.Ser429Phe
ENST00000443953.5:c.*1386C>T	ENSP00000406792.1:n.*1386C>T
ENST00000446622.5:n.369C>T
ENST00000459796.1:n.100C>T
ENST00000467388.1:n.201C>T
ENST00000479093.5:n.204C>T
NM_004044.6:c.1289C>T	NP_004035.2:p.Ser430Phe
XM_017004187.2:c.1289C>T	XP_016859676.1:p.Ser430Phe
XM_024452919.1:c.1112C>T	XP_024308687.1:p.Ser371Phe
NM_004044.7:c.1289C>T MANE Select	NP_004035.2:p.Ser430Phe