Canonical Allele Identifier: CA16605961

Gene: ATL3

Linked Data

• ClinVar Variation Id: 387129
• ClinVar RCV Id: RCV000444146 ; RCV000688331
• dbSNP Id: rs1057522704
• MyVariant Identifiers: chr11:g.63398629G>C (hg19) ; chr11:g.63631157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.63631157G>C , CM000673.2:g.63631157G>C	GRCh38
NC_000011.9:g.63398629G>C , CM000673.1:g.63398629G>C	GRCh37
NC_000011.8:g.63155205G>C	NCBI36
NG_033985.1:g.45818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398868.8:c.1422C>G MANE Select	ENSP00000381844.3:p.Asn474Lys
ENST00000398868.7:c.1422C>G	ENSP00000381844.3:p.Asn474Lys
ENST00000538786.1:c.1368C>G	ENSP00000437593.1:p.Asn456Lys
NM_001290048.1:c.1368C>G	NP_001276977.1:p.Asn456Lys
NM_015459.4:c.1422C>G	NP_056274.3:p.Asn474Lys
XM_006718493.1:c.1365C>G	XP_006718556.1:p.Asn455Lys
XM_011544902.1:c.834C>G	XP_011543204.1:p.Asn278Lys
XM_024448428.1:c.834C>G	XP_024304196.1:p.Asn278Lys
XR_001748255.1:n.325-6334G>C
NM_001290048.2:c.1368C>G	NP_001276977.1:p.Asn456Lys
NM_015459.5:c.1422C>G MANE Select	NP_056274.3:p.Asn474Lys