Canonical Allele Identifier: CA2507561167

Gene: SALL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136127T>G , CM000678.2:g.51136127T>G	GRCh38
NC_000016.9:g.51170038T>G , CM000678.1:g.51170038T>G	GRCh37
NC_000016.8:g.49727539T>G	NCBI36
NG_007990.1:g.20146A>C , LRG_674:g.20146A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*985A>C	ENSP00000407914.2:n.*985A>C
ENST00000685868.1:c.*985A>C	ENSP00000509873.1:n.*985A>C
ENST00000251020.9:c.*985A>C MANE Select	ENSP00000251020.4:n.*985A>C
ENST00000251020.8:c.*985A>C	ENSP00000251020.4:n.*985A>C
ENST00000440970.5:c.*985A>C	ENSP00000407914.1:n.*985A>C
NM_001127892.1:c.*985A>C	NP_001121364.1:n.*985A>C
NM_002968.2:c.*985A>C , LRG_674t1:c.*985A>C	NP_002959.2:n.*985A>C
XM_006721241.2:c.*985A>C	XP_006721304.1:n.*985A>C
XM_011523254.1:c.*985A>C	XP_011521556.1:n.*985A>C
XM_011523255.1:c.*985A>C	XP_011521557.1:n.*985A>C
NM_002968.3:c.*985A>C MANE Select	NP_002959.2:n.*985A>C
NM_001127892.2:c.*985A>C	NP_001121364.1:n.*985A>C