Canonical Allele Identifier: CA350457293

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209553T>A (hg19) ; chr2:g.215344830T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1279T>A MANE Select	ENSP00000236959.9:p.Tyr427Asn
ENST00000236959.13:c.1279T>A	ENSP00000236959.9:p.Tyr427Asn
ENST00000426233.1:c.284T>A
ENST00000435675.5:c.1276T>A	ENSP00000415935.1:p.Tyr426Asn
ENST00000443953.5:c.*1376T>A	ENSP00000406792.1:n.*1376T>A
ENST00000446622.5:n.359T>A
ENST00000459796.1:n.90T>A
ENST00000467388.1:n.191T>A
ENST00000479093.5:n.194T>A
NM_004044.6:c.1279T>A	NP_004035.2:p.Tyr427Asn
XM_017004187.2:c.1279T>A	XP_016859676.1:p.Tyr427Asn
XM_024452919.1:c.1102T>A	XP_024308687.1:p.Tyr368Asn
NM_004044.7:c.1279T>A MANE Select	NP_004035.2:p.Tyr427Asn