Canonical Allele Identifier: CA539542356

Gene: ATIC

Linked Data

• dbSNP Id: rs1466673945
• gnomAD v2: 2-216209473-T-C
• gnomAD v3: 2-215344750-T-C
• gnomAD v4: 2-215344750-T-C
• MyVariant Identifiers: chr2:g.216209473T>C (hg19) ; chr2:g.215344750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344750T>C , CM000664.2:g.215344750T>C	GRCh38
NC_000002.11:g.216209473T>C , CM000664.1:g.216209473T>C	GRCh37
NC_000002.10:g.215917718T>C	NCBI36
NG_013002.1:g.37795T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1228-29T>C MANE Select	ENSP00000236959.9:n.1228-29T>C
ENST00000236959.13:c.1228-29T>C	ENSP00000236959.9:n.1228-29T>C
ENST00000426233.1:c.233-29T>C
ENST00000435675.5:c.1225-29T>C	ENSP00000415935.1:n.1225-29T>C
ENST00000443953.5:c.*1325-29T>C	ENSP00000406792.1:n.*1325-29T>C
ENST00000446622.5:n.308-29T>C
ENST00000459796.1:n.39-29T>C
ENST00000467388.1:n.140-29T>C
ENST00000479093.5:n.143-29T>C
NM_004044.6:c.1228-29T>C	NP_004035.2:n.1228-29T>C
XM_017004187.2:c.1228-29T>C	XP_016859676.1:n.1228-29T>C
XM_024452919.1:c.1051-29T>C	XP_024308687.1:n.1051-29T>C
NM_004044.7:c.1228-29T>C MANE Select	NP_004035.2:n.1228-29T>C