Canonical Allele Identifier: CA6063507

Gene: ATL3

Linked Data

• ClinVar Variation Id: 474835
• ClinVar RCV Id: RCV000558742 ; RCV002395470 ; RCV003925699
• dbSNP Id: rs112847445
• ExAC: 11:63398550 C / T
• gnomAD v2: 11-63398550-C-T
• gnomAD v3: 11-63631078-C-T
• gnomAD v4: 11-63631078-C-T
• MyVariant Identifiers: chr11:g.63398550C>T (hg19) ; chr11:g.63631078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.63631078C>T , CM000673.2:g.63631078C>T	GRCh38
NC_000011.9:g.63398550C>T , CM000673.1:g.63398550C>T	GRCh37
NC_000011.8:g.63155126C>T	NCBI36
NG_033985.1:g.45897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398868.8:c.1501G>A MANE Select	ENSP00000381844.3:p.Gly501Arg
ENST00000398868.7:c.1501G>A	ENSP00000381844.3:p.Gly501Arg
ENST00000538786.1:c.1447G>A	ENSP00000437593.1:p.Gly483Arg
NM_001290048.1:c.1447G>A	NP_001276977.1:p.Gly483Arg
NM_015459.4:c.1501G>A	NP_056274.3:p.Gly501Arg
XM_006718493.1:c.1444G>A	XP_006718556.1:p.Gly482Arg
XM_011544902.1:c.913G>A	XP_011543204.1:p.Gly305Arg
XM_024448428.1:c.913G>A	XP_024304196.1:p.Gly305Arg
XR_001748255.1:n.325-6413C>T
NM_001290048.2:c.1447G>A	NP_001276977.1:p.Gly483Arg
NM_015459.5:c.1501G>A MANE Select	NP_056274.3:p.Gly501Arg