Canonical Allele Identifier: CA764608169

Gene: ATIC

Linked Data

• dbSNP Id: rs1341219228
• MyVariant Identifiers: chr2:g.216210075T>C (hg19) ; chr2:g.215345352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215345352T>C , CM000664.2:g.215345352T>C	GRCh38
NC_000002.11:g.216210075T>C , CM000664.1:g.216210075T>C	GRCh37
NC_000002.10:g.215918320T>C	NCBI36
NG_013002.1:g.38397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1320+481T>C MANE Select	ENSP00000236959.9:n.1320+481T>C
ENST00000236959.13:c.1320+481T>C	ENSP00000236959.9:n.1320+481T>C
ENST00000426233.1:c.325+481T>C
ENST00000435675.5:c.1317+481T>C	ENSP00000415935.1:n.1317+481T>C
ENST00000443953.5:c.*1417+481T>C	ENSP00000406792.1:n.*1417+481T>C
ENST00000446622.5:n.400+481T>C
ENST00000459796.1:n.612T>C
ENST00000467388.1:n.232+481T>C
ENST00000479093.5:n.235+481T>C
NM_004044.6:c.1320+481T>C	NP_004035.2:n.1320+481T>C
XM_017004187.2:c.1320+481T>C	XP_016859676.1:n.1320+481T>C
XM_024452919.1:c.1143+481T>C	XP_024308687.1:n.1143+481T>C
NM_004044.7:c.1320+481T>C MANE Select	NP_004035.2:n.1320+481T>C