Canonical Allele Identifier: CA409017085
Community Standard Title: NM_020436.5(SALL4):c.523A>G (p.Lys175Glu)
Gene: SALL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51791960T>C , CM000682.2:g.51791960T>C GRCh38
NC_000020.10:g.50408499T>C , CM000682.1:g.50408499T>C GRCh37
NC_000020.9:g.49841906T>C NCBI36
NG_008000.1:g.15550A>G , LRG_675:g.15550A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020436.5:c.523A>G MANE Select NP_065169.1:p.Lys175Glu
ENST00000217086.9:c.523A>G MANE Select ENSP00000217086.4:p.Lys175Glu
NM_001318031.1:c.523A>G NP_001304960.1:p.Lys175Glu
NM_001318031.2:c.523A>G NP_001304960.1:p.Lys175Glu
NM_020436.3:c.523A>G , LRG_675t1:c.523A>G NP_065169.1:p.Lys175Glu
NM_020436.4:c.523A>G NP_065169.1:p.Lys175Glu
ENST00000217086.8:c.523A>G ENSP00000217086.4:p.Lys175Glu
ENST00000371539.7:c.131-2819A>G ENSP00000360594.3:n.131-2819A>G
ENST00000395997.3:c.523A>G ENSP00000379319.3:p.Lys175Glu
XM_005260467.2:c.217A>G XP_005260524.1:p.Lys73Glu
XM_005260467.4:c.217A>G XP_005260524.1:p.Lys73Glu
XM_006723834.2:c.217A>G XP_006723897.1:p.Lys73Glu
XM_011528919.1:c.397A>G XP_011527221.1:p.Lys133Glu
XM_011528920.1:c.217A>G XP_011527222.1:p.Lys73Glu
XM_011528921.1:c.217A>G XP_011527223.1:p.Lys73Glu
XM_011528921.2:c.217A>G XP_011527223.1:p.Lys73Glu
XM_011528922.1:c.217A>G XP_011527224.1:p.Lys73Glu
XM_011528922.2:c.217A>G XP_011527224.1:p.Lys73Glu
XM_011528923.1:c.523A>G XP_011527225.1:p.Lys175Glu