Canonical Allele Identifier: CA64816654

Gene: ATIC

Linked Data

• dbSNP Id: rs980454865
• gnomAD v3: 2-215344720-C-T
• gnomAD v4: 2-215344720-C-T
• MyVariant Identifiers: chr2:g.216209443C>T (hg19) ; chr2:g.215344720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344720C>T , CM000664.2:g.215344720C>T	GRCh38
NC_000002.11:g.216209443C>T , CM000664.1:g.216209443C>T	GRCh37
NC_000002.10:g.215917688C>T	NCBI36
NG_013002.1:g.37765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.1228-59C>T MANE Select	ENSP00000236959.9:n.1228-59C>T
ENST00000236959.13:c.1228-59C>T	ENSP00000236959.9:n.1228-59C>T
ENST00000426233.1:c.233-59C>T
ENST00000435675.5:c.1225-59C>T	ENSP00000415935.1:n.1225-59C>T
ENST00000443953.5:c.*1325-59C>T	ENSP00000406792.1:n.*1325-59C>T
ENST00000446622.5:n.308-59C>T
ENST00000459796.1:n.39-59C>T
ENST00000467388.1:n.140-59C>T
ENST00000479093.5:n.143-59C>T
NM_004044.6:c.1228-59C>T	NP_004035.2:n.1228-59C>T
XM_017004187.2:c.1228-59C>T	XP_016859676.1:n.1228-59C>T
XM_024452919.1:c.1051-59C>T	XP_024308687.1:n.1051-59C>T
NM_004044.7:c.1228-59C>T MANE Select	NP_004035.2:n.1228-59C>T