Canonical Allele Identifier: CA409005728

Gene: SALL4

Linked Data

• dbSNP Id: rs1194985469
• gnomAD v2: 20-50400890-C-A
• gnomAD v4: 20-51784351-C-A
• MyVariant Identifiers: chr20:g.50400890C>A (hg19) ; chr20:g.51784351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784351C>A , CM000682.2:g.51784351C>A	GRCh38
NC_000020.10:g.50400890C>A , CM000682.1:g.50400890C>A	GRCh37
NC_000020.9:g.49834297C>A	NCBI36
NG_008000.1:g.23159G>T , LRG_675:g.23159G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.3076G>T MANE Select	ENSP00000217086.4:p.Asp1026Tyr
ENST00000217086.8:c.3076G>T	ENSP00000217086.4:p.Asp1026Tyr
ENST00000371539.7:c.745G>T	ENSP00000360594.3:p.Asp249Tyr
ENST00000395997.3:c.1765G>T	ENSP00000379319.3:p.Asp589Tyr
NM_020436.3:c.3076G>T , LRG_675t1:c.3076G>T	NP_065169.1:p.Asp1026Tyr
XM_005260467.2:c.2770G>T	XP_005260524.1:p.Asp924Tyr
XM_006723834.2:c.2770G>T	XP_006723897.1:p.Asp924Tyr
XM_011528919.1:c.2950G>T	XP_011527221.1:p.Asp984Tyr
XM_011528920.1:c.2770G>T	XP_011527222.1:p.Asp924Tyr
XM_011528921.1:c.2770G>T	XP_011527223.1:p.Asp924Tyr
XM_011528922.1:c.2770G>T	XP_011527224.1:p.Asp924Tyr
XM_011528923.1:c.1765G>T	XP_011527225.1:p.Asp589Tyr
NM_001318031.1:c.1765G>T	NP_001304960.1:p.Asp589Tyr
NM_020436.4:c.3076G>T	NP_065169.1:p.Asp1026Tyr
XM_005260467.4:c.2770G>T	XP_005260524.1:p.Asp924Tyr
XM_011528921.2:c.2770G>T	XP_011527223.1:p.Asp924Tyr
XM_011528922.2:c.2770G>T	XP_011527224.1:p.Asp924Tyr
NM_020436.5:c.3076G>T MANE Select	NP_065169.1:p.Asp1026Tyr
NM_001318031.2:c.1765G>T	NP_001304960.1:p.Asp589Tyr