Canonical Allele Identifier: CA622243749

Gene: SALL1

Linked Data

• dbSNP Id: rs1224086727
• gnomAD v2: 16-51170080-C-A
• gnomAD v3: 16-51136169-C-A
• gnomAD v4: 16-51136169-C-A
• MyVariant Identifiers: chr16:g.51170080C>A (hg19) ; chr16:g.51136169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136169C>A , CM000678.2:g.51136169C>A	GRCh38
NC_000016.9:g.51170080C>A , CM000678.1:g.51170080C>A	GRCh37
NC_000016.8:g.49727581C>A	NCBI36
NG_007990.1:g.20104G>T , LRG_674:g.20104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*943G>T	ENSP00000407914.2:n.*943G>T
ENST00000685868.1:c.*943G>T	ENSP00000509873.1:n.*943G>T
ENST00000251020.9:c.*943G>T MANE Select	ENSP00000251020.4:n.*943G>T
ENST00000251020.8:c.*943G>T	ENSP00000251020.4:n.*943G>T
ENST00000440970.5:c.*943G>T	ENSP00000407914.1:n.*943G>T
NM_001127892.1:c.*943G>T	NP_001121364.1:n.*943G>T
NM_002968.2:c.*943G>T , LRG_674t1:c.*943G>T	NP_002959.2:n.*943G>T
XM_006721241.2:c.*943G>T	XP_006721304.1:n.*943G>T
XM_011523254.1:c.*943G>T	XP_011521556.1:n.*943G>T
XM_011523255.1:c.*943G>T	XP_011521557.1:n.*943G>T
NM_002968.3:c.*943G>T MANE Select	NP_002959.2:n.*943G>T
NM_001127892.2:c.*943G>T	NP_001121364.1:n.*943G>T