Canonical Allele Identifier: CA6063514

Gene: ATL3

Linked Data

• ClinVar Variation Id: 541678
• ClinVar RCV Id: RCV000651989 ; RCV002388142
• dbSNP Id: rs773136140
• ExAC: 11:63398600 A / G
• gnomAD v2: 11-63398600-A-G
• gnomAD v3: 11-63631128-A-G
• gnomAD v4: 11-63631128-A-G
• MyVariant Identifiers: chr11:g.63398600A>G (hg19) ; chr11:g.63631128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.63631128A>G , CM000673.2:g.63631128A>G	GRCh38
NC_000011.9:g.63398600A>G , CM000673.1:g.63398600A>G	GRCh37
NC_000011.8:g.63155176A>G	NCBI36
NG_033985.1:g.45847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398868.8:c.1451T>C MANE Select	ENSP00000381844.3:p.Leu484Pro
ENST00000398868.7:c.1451T>C	ENSP00000381844.3:p.Leu484Pro
ENST00000538786.1:c.1397T>C	ENSP00000437593.1:p.Leu466Pro
NM_001290048.1:c.1397T>C	NP_001276977.1:p.Leu466Pro
NM_015459.4:c.1451T>C	NP_056274.3:p.Leu484Pro
XM_006718493.1:c.1394T>C	XP_006718556.1:p.Leu465Pro
XM_011544902.1:c.863T>C	XP_011543204.1:p.Leu288Pro
XM_024448428.1:c.863T>C	XP_024304196.1:p.Leu288Pro
XR_001748255.1:n.325-6363A>G
NM_001290048.2:c.1397T>C	NP_001276977.1:p.Leu466Pro
NM_015459.5:c.1451T>C MANE Select	NP_056274.3:p.Leu484Pro