Canonical Allele Identifier: CA350457324

Gene: ATIC

Linked Data

• MyVariant Identifiers: chr2:g.216209567C>G (hg19) ; chr2:g.215344844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344844C>G , CM000664.2:g.215344844C>G	GRCh38
NC_000002.11:g.216209567C>G , CM000664.1:g.216209567C>G	GRCh37
NC_000002.10:g.215917812C>G	NCBI36
NG_013002.1:g.37889C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.1293C>G MANE Select	ENSP00000236959.9:p.Asn431Lys
ENST00000236959.13:c.1293C>G	ENSP00000236959.9:p.Asn431Lys
ENST00000426233.1:c.298C>G
ENST00000435675.5:c.1290C>G	ENSP00000415935.1:p.Asn430Lys
ENST00000443953.5:c.*1390C>G	ENSP00000406792.1:n.*1390C>G
ENST00000446622.5:n.373C>G
ENST00000459796.1:n.104C>G
ENST00000467388.1:n.205C>G
ENST00000479093.5:n.208C>G
NM_004044.6:c.1293C>G	NP_004035.2:p.Asn431Lys
XM_017004187.2:c.1293C>G	XP_016859676.1:p.Asn431Lys
XM_024452919.1:c.1116C>G	XP_024308687.1:p.Asn372Lys
NM_004044.7:c.1293C>G MANE Select	NP_004035.2:p.Asn431Lys