Canonical Allele Identifier: CA315370704

Gene: SALL4

Linked Data

• dbSNP Id: rs779868337
• gnomAD v2: 20-50405333-G-A
• gnomAD v3: 20-51788794-G-A
• gnomAD v4: 20-51788794-G-A
• MyVariant Identifiers: chr20:g.50405333G>A (hg19) ; chr20:g.51788794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51788794G>A , CM000682.2:g.51788794G>A	GRCh38
NC_000020.10:g.50405333G>A , CM000682.1:g.50405333G>A	GRCh37
NC_000020.9:g.49838740G>A	NCBI36
NG_008000.1:g.18716C>T , LRG_675:g.18716C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2742+67C>T MANE Select	ENSP00000217086.4:n.2742+67C>T
ENST00000217086.8:c.2742+67C>T	ENSP00000217086.4:n.2742+67C>T
ENST00000371539.7:c.411+67C>T	ENSP00000360594.3:n.411+67C>T
ENST00000395997.3:c.1431+67C>T	ENSP00000379319.3:n.1431+67C>T
NM_020436.3:c.2742+67C>T , LRG_675t1:c.2742+67C>T	NP_065169.1:n.2742+67C>T
XM_005260467.2:c.2436+67C>T	XP_005260524.1:n.2436+67C>T
XM_006723834.2:c.2436+67C>T	XP_006723897.1:n.2436+67C>T
XM_011528919.1:c.2616+67C>T	XP_011527221.1:n.2616+67C>T
XM_011528920.1:c.2436+67C>T	XP_011527222.1:n.2436+67C>T
XM_011528921.1:c.2436+67C>T	XP_011527223.1:n.2436+67C>T
XM_011528922.1:c.2436+67C>T	XP_011527224.1:n.2436+67C>T
XM_011528923.1:c.1431+67C>T	XP_011527225.1:n.1431+67C>T
NM_001318031.1:c.1431+67C>T	NP_001304960.1:n.1431+67C>T
NM_020436.4:c.2742+67C>T	NP_065169.1:n.2742+67C>T
XM_005260467.4:c.2436+67C>T	XP_005260524.1:n.2436+67C>T
XM_011528921.2:c.2436+67C>T	XP_011527223.1:n.2436+67C>T
XM_011528922.2:c.2436+67C>T	XP_011527224.1:n.2436+67C>T
NM_020436.5:c.2742+67C>T MANE Select	NP_065169.1:n.2742+67C>T
NM_001318031.2:c.1431+67C>T	NP_001304960.1:n.1431+67C>T