Canonical Allele Identifier: CA6063461

Gene: ATL3

Linked Data

• ClinVar Variation Id: 541684
• ClinVar RCV Id: RCV000651995 ; RCV002531989
• dbSNP Id: rs201433550
• ExAC: 11:63396808 C / T
• gnomAD v2: 11-63396808-C-T
• gnomAD v3: 11-63629336-C-T
• gnomAD v4: 11-63629336-C-T
• MyVariant Identifiers: chr11:g.63396808C>T (hg19) ; chr11:g.63629336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.63629336C>T , CM000673.2:g.63629336C>T	GRCh38
NC_000011.9:g.63396808C>T , CM000673.1:g.63396808C>T	GRCh37
NC_000011.8:g.63153384C>T	NCBI36
NG_033985.1:g.47639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398868.8:c.1609G>A MANE Select	ENSP00000381844.3:p.Asp537Asn
ENST00000398868.7:c.1609G>A	ENSP00000381844.3:p.Asp537Asn
ENST00000538786.1:c.1555G>A	ENSP00000437593.1:p.Asp519Asn
NM_001290048.1:c.1555G>A	NP_001276977.1:p.Asp519Asn
NM_015459.4:c.1609G>A	NP_056274.3:p.Asp537Asn
XM_006718493.1:c.1552G>A	XP_006718556.1:p.Asp518Asn
XM_011544902.1:c.1021G>A	XP_011543204.1:p.Asp341Asn
XM_024448428.1:c.1021G>A	XP_024304196.1:p.Asp341Asn
XR_001748255.1:n.325-8155C>T
NM_001290048.2:c.1555G>A	NP_001276977.1:p.Asp519Asn
NM_015459.5:c.1609G>A MANE Select	NP_056274.3:p.Asp537Asn