Canonical Allele Identifier: CA340062
Gene: SALL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3329
ClinVar RCV Id: RCV000003493
dbSNP Id: rs74315429
MyVariant Identifiers: chr20:g.50405479T>C (hg19) chr20:g.51788940T>C (hg38)
PubMed: PMID:12868480 PMID:16402211 PMID:20301547
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51788940T>C , CM000682.2:g.51788940T>C GRCh38
NC_000020.10:g.50405479T>C , CM000682.1:g.50405479T>C GRCh37
NC_000020.9:g.49838886T>C NCBI36
NG_008000.1:g.18570A>G , LRG_675:g.18570A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2663A>G MANE Select ENSP00000217086.4:p.His888Arg
ENST00000217086.8:c.2663A>G ENSP00000217086.4:p.His888Arg
ENST00000371539.7:c.332A>G ENSP00000360594.3:p.His111Arg
ENST00000395997.3:c.1352A>G ENSP00000379319.3:p.His451Arg
NM_020436.3:c.2663A>G , LRG_675t1:c.2663A>G NP_065169.1:p.His888Arg
XM_005260467.2:c.2357A>G XP_005260524.1:p.His786Arg
XM_006723834.2:c.2357A>G XP_006723897.1:p.His786Arg
XM_011528919.1:c.2537A>G XP_011527221.1:p.His846Arg
XM_011528920.1:c.2357A>G XP_011527222.1:p.His786Arg
XM_011528921.1:c.2357A>G XP_011527223.1:p.His786Arg
XM_011528922.1:c.2357A>G XP_011527224.1:p.His786Arg
XM_011528923.1:c.1352A>G XP_011527225.1:p.His451Arg
NM_001318031.1:c.1352A>G NP_001304960.1:p.His451Arg
NM_020436.4:c.2663A>G NP_065169.1:p.His888Arg
XM_005260467.4:c.2357A>G XP_005260524.1:p.His786Arg
XM_011528921.2:c.2357A>G XP_011527223.1:p.His786Arg
XM_011528922.2:c.2357A>G XP_011527224.1:p.His786Arg
NM_020436.5:c.2663A>G MANE Select NP_065169.1:p.His888Arg
NM_001318031.2:c.1352A>G NP_001304960.1:p.His451Arg
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