Canonical Allele Identifier: CA395883367
Gene: SALL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139332G>A , CM000678.2:g.51139332G>A GRCh38
NC_000016.9:g.51173243G>A , CM000678.1:g.51173243G>A GRCh37
NC_000016.8:g.49730744G>A NCBI36
NG_007990.1:g.16941C>T , LRG_674:g.16941C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.2890C>T ENSP00000407914.2:p.Pro964Ser
ENST00000570206.2:c.2599C>T ENSP00000456777.2:p.Pro867Ser
ENST00000685868.1:c.2890C>T ENSP00000509873.1:p.Pro964Ser
ENST00000690502.1:c.2890C>T ENSP00000510560.1:p.Pro964Ser
ENST00000251020.9:c.2890C>T MANE Select ENSP00000251020.4:p.Pro964Ser
ENST00000251020.8:c.2890C>T ENSP00000251020.4:p.Pro964Ser
ENST00000440970.5:c.2599C>T ENSP00000407914.1:p.Pro867Ser
ENST00000566102.1:c.77-1780C>T ENSP00000455582.1:n.77-1780C>T
ENST00000570206.1:c.2599C>T ENSP00000456777.1:p.Pro867Ser
NM_001127892.1:c.2599C>T NP_001121364.1:p.Pro867Ser
NM_002968.2:c.2890C>T , LRG_674t1:c.2890C>T NP_002959.2:p.Pro964Ser
XM_006721241.2:c.2890C>T XP_006721304.1:p.Pro964Ser
XM_011523254.1:c.2890C>T XP_011521556.1:p.Pro964Ser
XM_011523255.1:c.2890C>T XP_011521557.1:p.Pro964Ser
NM_002968.3:c.2890C>T MANE Select NP_002959.2:p.Pro964Ser
NM_001127892.2:c.2599C>T NP_001121364.1:p.Pro867Ser