Canonical Allele Identifier: CA350457292

Gene: ATIC

Linked Data

• gnomAD v4: 2-215344830-T-C
• MyVariant Identifiers: chr2:g.216209553T>C (hg19) ; chr2:g.215344830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344830T>C , CM000664.2:g.215344830T>C	GRCh38
NC_000002.11:g.216209553T>C , CM000664.1:g.216209553T>C	GRCh37
NC_000002.10:g.215917798T>C	NCBI36
NG_013002.1:g.37875T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1279T>C MANE Select	ENSP00000236959.9:p.Tyr427His
ENST00000236959.13:c.1279T>C	ENSP00000236959.9:p.Tyr427His
ENST00000426233.1:c.284T>C
ENST00000435675.5:c.1276T>C	ENSP00000415935.1:p.Tyr426His
ENST00000443953.5:c.*1376T>C	ENSP00000406792.1:n.*1376T>C
ENST00000446622.5:n.359T>C
ENST00000459796.1:n.90T>C
ENST00000467388.1:n.191T>C
ENST00000479093.5:n.194T>C
NM_004044.6:c.1279T>C	NP_004035.2:p.Tyr427His
XM_017004187.2:c.1279T>C	XP_016859676.1:p.Tyr427His
XM_024452919.1:c.1102T>C	XP_024308687.1:p.Tyr368His
NM_004044.7:c.1279T>C MANE Select	NP_004035.2:p.Tyr427His