Canonical Allele Identifier: CA511025437

Gene: SALL4

Linked Data

• ClinVar Variation Id: 497750
• ClinVar RCV Id: RCV000598198
• dbSNP Id: rs1555848961
• MyVariant Identifiers: chr20:g.50400805T>C (hg19) ; chr20:g.51784266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784266T>C , CM000682.2:g.51784266T>C	GRCh38
NC_000020.10:g.50400805T>C , CM000682.1:g.50400805T>C	GRCh37
NC_000020.9:g.49834212T>C	NCBI36
NG_008000.1:g.23244A>G , LRG_675:g.23244A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.3161A>G MANE Select	ENSP00000217086.4:p.Ter1054=
ENST00000217086.8:c.3161A>G	ENSP00000217086.4:p.Ter1054=
ENST00000371539.7:c.830A>G	ENSP00000360594.3:p.Ter277=
ENST00000395997.3:c.1850A>G	ENSP00000379319.3:p.Ter617=
NM_020436.3:c.3161A>G , LRG_675t1:c.3161A>G	NP_065169.1:p.Ter1054=
XM_005260467.2:c.2855A>G	XP_005260524.1:p.Ter952=
XM_006723834.2:c.2855A>G	XP_006723897.1:p.Ter952=
XM_011528919.1:c.3035A>G	XP_011527221.1:p.Ter1012=
XM_011528920.1:c.2855A>G	XP_011527222.1:p.Ter952=
XM_011528921.1:c.2855A>G	XP_011527223.1:p.Ter952=
XM_011528922.1:c.2855A>G	XP_011527224.1:p.Ter952=
XM_011528923.1:c.1850A>G	XP_011527225.1:p.Ter617=
NM_001318031.1:c.1850A>G	NP_001304960.1:p.Ter617=
NM_020436.4:c.3161A>G	NP_065169.1:p.Ter1054=
XM_005260467.4:c.2855A>G	XP_005260524.1:p.Ter952=
XM_011528921.2:c.2855A>G	XP_011527223.1:p.Ter952=
XM_011528922.2:c.2855A>G	XP_011527224.1:p.Ter952=
NM_020436.5:c.3161A>G MANE Select	NP_065169.1:p.Ter1054=
NM_001318031.2:c.1850A>G	NP_001304960.1:p.Ter617=