Canonical Allele Identifier: CA9912096

Gene: SALL4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51790036C>T , CM000682.2:g.51790036C>T	GRCh38
NC_000020.10:g.50406575C>T , CM000682.1:g.50406575C>T	GRCh37
NC_000020.9:g.49839982C>T	NCBI36
NG_008000.1:g.17474G>A , LRG_675:g.17474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.2447G>A MANE Select	ENSP00000217086.4:p.Arg816His
ENST00000217086.8:c.2447G>A	ENSP00000217086.4:p.Arg816His
ENST00000371539.7:c.131-895G>A	ENSP00000360594.3:n.131-895G>A
ENST00000395997.3:c.1151-895G>A	ENSP00000379319.3:n.1151-895G>A
NM_020436.3:c.2447G>A , LRG_675t1:c.2447G>A	NP_065169.1:p.Arg816His
XM_005260467.2:c.2141G>A	XP_005260524.1:p.Arg714His
XM_006723834.2:c.2141G>A	XP_006723897.1:p.Arg714His
XM_011528919.1:c.2321G>A	XP_011527221.1:p.Arg774His
XM_011528920.1:c.2141G>A	XP_011527222.1:p.Arg714His
XM_011528921.1:c.2141G>A	XP_011527223.1:p.Arg714His
XM_011528922.1:c.2141G>A	XP_011527224.1:p.Arg714His
XM_011528923.1:c.1151-895G>A	XP_011527225.1:n.1151-895G>A
NM_001318031.1:c.1151-895G>A	NP_001304960.1:n.1151-895G>A
NM_020436.4:c.2447G>A	NP_065169.1:p.Arg816His
XM_005260467.4:c.2141G>A	XP_005260524.1:p.Arg714His
XM_011528921.2:c.2141G>A	XP_011527223.1:p.Arg714His
XM_011528922.2:c.2141G>A	XP_011527224.1:p.Arg714His
NM_020436.5:c.2447G>A MANE Select	NP_065169.1:p.Arg816His
NM_001318031.2:c.1151-895G>A	NP_001304960.1:n.1151-895G>A