Canonical Allele Identifier: CA409005941

Gene: SALL4

Linked Data

• MyVariant Identifiers: chr20:g.50400997A>C (hg19) ; chr20:g.51784458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784458A>C , CM000682.2:g.51784458A>C	GRCh38
NC_000020.10:g.50400997A>C , CM000682.1:g.50400997A>C	GRCh37
NC_000020.9:g.49834404A>C	NCBI36
NG_008000.1:g.23052T>G , LRG_675:g.23052T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2969T>G MANE Select	ENSP00000217086.4:p.Ile990Ser
ENST00000217086.8:c.2969T>G	ENSP00000217086.4:p.Ile990Ser
ENST00000371539.7:c.638T>G	ENSP00000360594.3:p.Ile213Ser
ENST00000395997.3:c.1658T>G	ENSP00000379319.3:p.Ile553Ser
NM_020436.3:c.2969T>G , LRG_675t1:c.2969T>G	NP_065169.1:p.Ile990Ser
XM_005260467.2:c.2663T>G	XP_005260524.1:p.Ile888Ser
XM_006723834.2:c.2663T>G	XP_006723897.1:p.Ile888Ser
XM_011528919.1:c.2843T>G	XP_011527221.1:p.Ile948Ser
XM_011528920.1:c.2663T>G	XP_011527222.1:p.Ile888Ser
XM_011528921.1:c.2663T>G	XP_011527223.1:p.Ile888Ser
XM_011528922.1:c.2663T>G	XP_011527224.1:p.Ile888Ser
XM_011528923.1:c.1658T>G	XP_011527225.1:p.Ile553Ser
NM_001318031.1:c.1658T>G	NP_001304960.1:p.Ile553Ser
NM_020436.4:c.2969T>G	NP_065169.1:p.Ile990Ser
XM_005260467.4:c.2663T>G	XP_005260524.1:p.Ile888Ser
XM_011528921.2:c.2663T>G	XP_011527223.1:p.Ile888Ser
XM_011528922.2:c.2663T>G	XP_011527224.1:p.Ile888Ser
NM_020436.5:c.2969T>G MANE Select	NP_065169.1:p.Ile990Ser
NM_001318031.2:c.1658T>G	NP_001304960.1:p.Ile553Ser