Canonical Allele Identifier: CA395882135

Gene: SALL1

Linked Data

• gnomAD v4: 16-51139167-G-T
• MyVariant Identifiers: chr16:g.51173078G>T (hg19) ; chr16:g.51139167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139167G>T , CM000678.2:g.51139167G>T	GRCh38
NC_000016.9:g.51173078G>T , CM000678.1:g.51173078G>T	GRCh37
NC_000016.8:g.49730579G>T	NCBI36
NG_007990.1:g.17106C>A , LRG_674:g.17106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3055C>A	ENSP00000407914.2:p.His1019Asn
ENST00000570206.2:c.2764C>A	ENSP00000456777.2:p.His922Asn
ENST00000685868.1:c.3055C>A	ENSP00000509873.1:p.His1019Asn
ENST00000690502.1:c.3055C>A	ENSP00000510560.1:p.His1019Asn
ENST00000251020.9:c.3055C>A MANE Select	ENSP00000251020.4:p.His1019Asn
ENST00000251020.8:c.3055C>A	ENSP00000251020.4:p.His1019Asn
ENST00000440970.5:c.2764C>A	ENSP00000407914.1:p.His922Asn
ENST00000566102.1:c.77-1615C>A	ENSP00000455582.1:n.77-1615C>A
ENST00000570206.1:c.2764C>A	ENSP00000456777.1:p.His922Asn
NM_001127892.1:c.2764C>A	NP_001121364.1:p.His922Asn
NM_002968.2:c.3055C>A , LRG_674t1:c.3055C>A	NP_002959.2:p.His1019Asn
XM_006721241.2:c.3055C>A	XP_006721304.1:p.His1019Asn
XM_011523254.1:c.3055C>A	XP_011521556.1:p.His1019Asn
XM_011523255.1:c.3055C>A	XP_011521557.1:p.His1019Asn
NM_002968.3:c.3055C>A MANE Select	NP_002959.2:p.His1019Asn
NM_001127892.2:c.2764C>A	NP_001121364.1:p.His922Asn