Canonical Allele Identifier: CA2662989541
Gene: ATIC HGNC NCBI

Linked Data

gnomAD v4: 2-215344735-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215344735G>A , CM000664.2:g.215344735G>A GRCh38
NC_000002.11:g.216209458G>A , CM000664.1:g.216209458G>A GRCh37
NC_000002.10:g.215917703G>A NCBI36
NG_013002.1:g.37780G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000236959.14:c.1228-44G>A MANE Select ENSP00000236959.9:n.1228-44G>A
ENST00000236959.13:c.1228-44G>A ENSP00000236959.9:n.1228-44G>A
ENST00000426233.1:c.233-44G>A
ENST00000435675.5:c.1225-44G>A ENSP00000415935.1:n.1225-44G>A
ENST00000443953.5:c.*1325-44G>A ENSP00000406792.1:n.*1325-44G>A
ENST00000446622.5:n.308-44G>A
ENST00000459796.1:n.39-44G>A
ENST00000467388.1:n.140-44G>A
ENST00000479093.5:n.143-44G>A
NM_004044.6:c.1228-44G>A NP_004035.2:n.1228-44G>A
XM_017004187.2:c.1228-44G>A XP_016859676.1:n.1228-44G>A
XM_024452919.1:c.1051-44G>A XP_024308687.1:n.1051-44G>A
NM_004044.7:c.1228-44G>A MANE Select NP_004035.2:n.1228-44G>A
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