Canonical Allele Identifier: CA252725

Gene: SALL4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51790529G>A , CM000682.2:g.51790529G>A	GRCh38
NC_000020.10:g.50407068G>A , CM000682.1:g.50407068G>A	GRCh37
NC_000020.9:g.49840475G>A	NCBI36
NG_008000.1:g.16981C>T , LRG_675:g.16981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.1954C>T MANE Select	ENSP00000217086.4:p.Gln652Ter
ENST00000217086.8:c.1954C>T	ENSP00000217086.4:p.Gln652Ter
ENST00000371539.7:c.131-1388C>T	ENSP00000360594.3:n.131-1388C>T
ENST00000395997.3:c.1150+804C>T	ENSP00000379319.3:n.1150+804C>T
NM_020436.3:c.1954C>T , LRG_675t1:c.1954C>T	NP_065169.1:p.Gln652Ter
XM_005260467.2:c.1648C>T	XP_005260524.1:p.Gln550Ter
XM_006723834.2:c.1648C>T	XP_006723897.1:p.Gln550Ter
XM_011528919.1:c.1828C>T	XP_011527221.1:p.Gln610Ter
XM_011528920.1:c.1648C>T	XP_011527222.1:p.Gln550Ter
XM_011528921.1:c.1648C>T	XP_011527223.1:p.Gln550Ter
XM_011528922.1:c.1648C>T	XP_011527224.1:p.Gln550Ter
XM_011528923.1:c.1150+804C>T	XP_011527225.1:n.1150+804C>T
NM_001318031.1:c.1150+804C>T	NP_001304960.1:n.1150+804C>T
NM_020436.4:c.1954C>T	NP_065169.1:p.Gln652Ter
XM_005260467.4:c.1648C>T	XP_005260524.1:p.Gln550Ter
XM_011528921.2:c.1648C>T	XP_011527223.1:p.Gln550Ter
XM_011528922.2:c.1648C>T	XP_011527224.1:p.Gln550Ter
NM_020436.5:c.1954C>T MANE Select	NP_065169.1:p.Gln652Ter
NM_001318031.2:c.1150+804C>T	NP_001304960.1:n.1150+804C>T