Canonical Allele Identifier: CA409005948

Gene: SALL4

Linked Data

• MyVariant Identifiers: chr20:g.50401001C>A (hg19) ; chr20:g.51784462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784462C>A , CM000682.2:g.51784462C>A	GRCh38
NC_000020.10:g.50401001C>A , CM000682.1:g.50401001C>A	GRCh37
NC_000020.9:g.49834408C>A	NCBI36
NG_008000.1:g.23048G>T , LRG_675:g.23048G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2965G>T MANE Select	ENSP00000217086.4:p.Val989Leu
ENST00000217086.8:c.2965G>T	ENSP00000217086.4:p.Val989Leu
ENST00000371539.7:c.634G>T	ENSP00000360594.3:p.Val212Leu
ENST00000395997.3:c.1654G>T	ENSP00000379319.3:p.Val552Leu
NM_020436.3:c.2965G>T , LRG_675t1:c.2965G>T	NP_065169.1:p.Val989Leu
XM_005260467.2:c.2659G>T	XP_005260524.1:p.Val887Leu
XM_006723834.2:c.2659G>T	XP_006723897.1:p.Val887Leu
XM_011528919.1:c.2839G>T	XP_011527221.1:p.Val947Leu
XM_011528920.1:c.2659G>T	XP_011527222.1:p.Val887Leu
XM_011528921.1:c.2659G>T	XP_011527223.1:p.Val887Leu
XM_011528922.1:c.2659G>T	XP_011527224.1:p.Val887Leu
XM_011528923.1:c.1654G>T	XP_011527225.1:p.Val552Leu
NM_001318031.1:c.1654G>T	NP_001304960.1:p.Val552Leu
NM_020436.4:c.2965G>T	NP_065169.1:p.Val989Leu
XM_005260467.4:c.2659G>T	XP_005260524.1:p.Val887Leu
XM_011528921.2:c.2659G>T	XP_011527223.1:p.Val887Leu
XM_011528922.2:c.2659G>T	XP_011527224.1:p.Val887Leu
NM_020436.5:c.2965G>T MANE Select	NP_065169.1:p.Val989Leu
NM_001318031.2:c.1654G>T	NP_001304960.1:p.Val552Leu