Canonical Allele Identifier: CA2662989539
Gene: ATIC HGNC NCBI

Linked Data

gnomAD v4: 2-215344732-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215344732T>C , CM000664.2:g.215344732T>C GRCh38
NC_000002.11:g.216209455T>C , CM000664.1:g.216209455T>C GRCh37
NC_000002.10:g.215917700T>C NCBI36
NG_013002.1:g.37777T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236959.14:c.1228-47T>C MANE Select ENSP00000236959.9:n.1228-47T>C
ENST00000236959.13:c.1228-47T>C ENSP00000236959.9:n.1228-47T>C
ENST00000426233.1:c.233-47T>C
ENST00000435675.5:c.1225-47T>C ENSP00000415935.1:n.1225-47T>C
ENST00000443953.5:c.*1325-47T>C ENSP00000406792.1:n.*1325-47T>C
ENST00000446622.5:n.308-47T>C
ENST00000459796.1:n.39-47T>C
ENST00000467388.1:n.140-47T>C
ENST00000479093.5:n.143-47T>C
NM_004044.6:c.1228-47T>C NP_004035.2:n.1228-47T>C
XM_017004187.2:c.1228-47T>C XP_016859676.1:n.1228-47T>C
XM_024452919.1:c.1051-47T>C XP_024308687.1:n.1051-47T>C
NM_004044.7:c.1228-47T>C MANE Select NP_004035.2:n.1228-47T>C
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