Canonical Allele Identifier: CA281297516

Gene: SALL1

Linked Data

• dbSNP Id: rs918723576
• MyVariant Identifiers: chr16:g.51170371G>A (hg19) ; chr16:g.51136460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136460G>A , CM000678.2:g.51136460G>A	GRCh38
NC_000016.9:g.51170371G>A , CM000678.1:g.51170371G>A	GRCh37
NC_000016.8:g.49727872G>A	NCBI36
NG_007990.1:g.19813C>T , LRG_674:g.19813C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.*652C>T	ENSP00000407914.2:n.*652C>T
ENST00000685868.1:c.*652C>T	ENSP00000509873.1:n.*652C>T
ENST00000251020.9:c.*652C>T MANE Select	ENSP00000251020.4:n.*652C>T
ENST00000251020.8:c.*652C>T	ENSP00000251020.4:n.*652C>T
ENST00000440970.5:c.*652C>T	ENSP00000407914.1:n.*652C>T
NM_001127892.1:c.*652C>T	NP_001121364.1:n.*652C>T
NM_002968.2:c.*652C>T , LRG_674t1:c.*652C>T	NP_002959.2:n.*652C>T
XM_006721241.2:c.*652C>T	XP_006721304.1:n.*652C>T
XM_011523254.1:c.*652C>T	XP_011521556.1:n.*652C>T
XM_011523255.1:c.*652C>T	XP_011521557.1:n.*652C>T
NM_002968.3:c.*652C>T MANE Select	NP_002959.2:n.*652C>T
NM_001127892.2:c.*652C>T	NP_001121364.1:n.*652C>T