Canonical Allele Identifier: CA431152270

Gene: ATIC

Linked Data

• dbSNP Id: rs1442404139
• gnomAD v4: 2-215344841-T-G
• MyVariant Identifiers: chr2:g.216209564T>G (hg19) ; chr2:g.215344841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344841T>G , CM000664.2:g.215344841T>G	GRCh38
NC_000002.11:g.216209564T>G , CM000664.1:g.216209564T>G	GRCh37
NC_000002.10:g.215917809T>G	NCBI36
NG_013002.1:g.37886T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1290T>G MANE Select	ENSP00000236959.9:p.Ser430=
ENST00000236959.13:c.1290T>G	ENSP00000236959.9:p.Ser430=
ENST00000426233.1:c.295T>G
ENST00000435675.5:c.1287T>G	ENSP00000415935.1:p.Ser429=
ENST00000443953.5:c.*1387T>G	ENSP00000406792.1:n.*1387T>G
ENST00000446622.5:n.370T>G
ENST00000459796.1:n.101T>G
ENST00000467388.1:n.202T>G
ENST00000479093.5:n.205T>G
NM_004044.6:c.1290T>G	NP_004035.2:p.Ser430=
XM_017004187.2:c.1290T>G	XP_016859676.1:p.Ser430=
XM_024452919.1:c.1113T>G	XP_024308687.1:p.Ser371=
NM_004044.7:c.1290T>G MANE Select	NP_004035.2:p.Ser430=