Canonical Allele Identifier: CA2662989912
Gene: ATIC HGNC NCBI

Linked Data

gnomAD v4: 2-215345434-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215345434G>C , CM000664.2:g.215345434G>C GRCh38
NC_000002.11:g.216210157G>C , CM000664.1:g.216210157G>C GRCh37
NC_000002.10:g.215918402G>C NCBI36
NG_013002.1:g.38479G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236959.14:c.1320+563G>C MANE Select ENSP00000236959.9:n.1320+563G>C
ENST00000236959.13:c.1320+563G>C ENSP00000236959.9:n.1320+563G>C
ENST00000426233.1:c.325+563G>C
ENST00000435675.5:c.1317+563G>C ENSP00000415935.1:n.1317+563G>C
ENST00000443953.5:c.*1417+563G>C ENSP00000406792.1:n.*1417+563G>C
ENST00000446622.5:n.400+563G>C
ENST00000459796.1:n.694G>C
ENST00000467388.1:n.232+563G>C
ENST00000479093.5:n.235+563G>C
NM_004044.6:c.1320+563G>C NP_004035.2:n.1320+563G>C
XM_017004187.2:c.1320+563G>C XP_016859676.1:n.1320+563G>C
XM_024452919.1:c.1143+563G>C XP_024308687.1:n.1143+563G>C
NM_004044.7:c.1320+563G>C MANE Select NP_004035.2:n.1320+563G>C
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