Canonical Allele Identifier: CA249034
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51137215T>C , CM000678.2:g.51137215T>C GRCh38
NC_000016.9:g.51171126T>C , CM000678.1:g.51171126T>C GRCh37
NC_000016.8:g.49728627T>C NCBI36
NG_007990.1:g.19058A>G , LRG_674:g.19058A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.3872A>G ENSP00000407914.2:p.Asn1291Ser
ENST00000570206.2:c.3581A>G ENSP00000456777.2:p.Asn1194Ser
ENST00000685868.1:c.3872A>G ENSP00000509873.1:p.Asn1291Ser
ENST00000251020.9:c.3872A>G MANE Select ENSP00000251020.4:p.Asn1291Ser
ENST00000251020.8:c.3872A>G ENSP00000251020.4:p.Asn1291Ser
ENST00000440970.5:c.3581A>G ENSP00000407914.1:p.Asn1194Ser
ENST00000566102.1:c.414A>G ENSP00000455582.1:n.414A>G
NM_001127892.1:c.3581A>G NP_001121364.1:p.Asn1194Ser
NM_002968.2:c.3872A>G , LRG_674t1:c.3872A>G NP_002959.2:p.Asn1291Ser
XM_006721241.2:c.3872A>G XP_006721304.1:p.Asn1291Ser
XM_011523254.1:c.3872A>G XP_011521556.1:p.Asn1291Ser
XM_011523255.1:c.3872A>G XP_011521557.1:p.Asn1291Ser
NM_002968.3:c.3872A>G MANE Select NP_002959.2:p.Asn1291Ser
NM_001127892.2:c.3581A>G NP_001121364.1:p.Asn1194Ser