Canonical Allele Identifier: CA9911969

Gene: SALL4

Linked Data

• dbSNP Id: rs149412142
• ExAC: 20:50401036 T / C
• gnomAD v2: 20-50401036-T-C
• gnomAD v3: 20-51784497-T-C
• gnomAD v4: 20-51784497-T-C
• MyVariant Identifiers: chr20:g.50401036T>C (hg19) ; chr20:g.51784497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784497T>C , CM000682.2:g.51784497T>C	GRCh38
NC_000020.10:g.50401036T>C , CM000682.1:g.50401036T>C	GRCh37
NC_000020.9:g.49834443T>C	NCBI36
NG_008000.1:g.23013A>G , LRG_675:g.23013A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2930A>G MANE Select	ENSP00000217086.4:p.Asn977Ser
ENST00000217086.8:c.2930A>G	ENSP00000217086.4:p.Asn977Ser
ENST00000371539.7:c.599A>G	ENSP00000360594.3:p.Asn200Ser
ENST00000395997.3:c.1619A>G	ENSP00000379319.3:p.Asn540Ser
NM_020436.3:c.2930A>G , LRG_675t1:c.2930A>G	NP_065169.1:p.Asn977Ser
XM_005260467.2:c.2624A>G	XP_005260524.1:p.Asn875Ser
XM_006723834.2:c.2624A>G	XP_006723897.1:p.Asn875Ser
XM_011528919.1:c.2804A>G	XP_011527221.1:p.Asn935Ser
XM_011528920.1:c.2624A>G	XP_011527222.1:p.Asn875Ser
XM_011528921.1:c.2624A>G	XP_011527223.1:p.Asn875Ser
XM_011528922.1:c.2624A>G	XP_011527224.1:p.Asn875Ser
XM_011528923.1:c.1619A>G	XP_011527225.1:p.Asn540Ser
NM_001318031.1:c.1619A>G	NP_001304960.1:p.Asn540Ser
NM_020436.4:c.2930A>G	NP_065169.1:p.Asn977Ser
XM_005260467.4:c.2624A>G	XP_005260524.1:p.Asn875Ser
XM_011528921.2:c.2624A>G	XP_011527223.1:p.Asn875Ser
XM_011528922.2:c.2624A>G	XP_011527224.1:p.Asn875Ser
NM_020436.5:c.2930A>G MANE Select	NP_065169.1:p.Asn977Ser
NM_001318031.2:c.1619A>G	NP_001304960.1:p.Asn540Ser