Canonical Allele Identifier: CA350473419

Gene: ATIC

Linked Data

• gnomAD v4: 2-215325311-G-C
• MyVariant Identifiers: chr2:g.216190034G>C (hg19) ; chr2:g.215325311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325311G>C , CM000664.2:g.215325311G>C	GRCh38
NC_000002.11:g.216190034G>C , CM000664.1:g.216190034G>C	GRCh37
NC_000002.10:g.215898279G>C	NCBI36
NG_013002.1:g.18356G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.361G>C MANE Select	ENSP00000236959.9:p.Val121Leu
ENST00000236959.13:c.361G>C	ENSP00000236959.9:p.Val121Leu
ENST00000413174.1:c.184G>C	ENSP00000402393.1:p.Val62Leu
ENST00000427397.5:c.*411G>C	ENSP00000394317.1:n.*411G>C
ENST00000435675.5:c.358G>C	ENSP00000415935.1:p.Val120Leu
ENST00000443953.5:c.*458G>C	ENSP00000406792.1:n.*458G>C
ENST00000444305.5:c.*39G>C	ENSP00000388675.1:n.*39G>C
ENST00000488712.5:n.573G>C
NM_004044.6:c.361G>C	NP_004035.2:p.Val121Leu
XM_017004187.2:c.361G>C	XP_016859676.1:p.Val121Leu
XM_024452919.1:c.184G>C	XP_024308687.1:p.Val62Leu
NM_004044.7:c.361G>C MANE Select	NP_004035.2:p.Val121Leu