Canonical Allele Identifier: CA495478373
Gene: SALL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.51171080T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51137169T>G , CM000678.2:g.51137169T>G GRCh38
NC_000016.9:g.51171080T>G , CM000678.1:g.51171080T>G GRCh37
NC_000016.8:g.49728581T>G NCBI36
NG_007990.1:g.19104A>C , LRG_674:g.19104A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.3918A>C ENSP00000407914.2:p.Gly1306=
ENST00000570206.2:c.3627A>C ENSP00000456777.2:p.Gly1209=
ENST00000685868.1:c.3918A>C ENSP00000509873.1:p.Gly1306=
ENST00000251020.9:c.3918A>C MANE Select ENSP00000251020.4:p.Gly1306=
ENST00000251020.8:c.3918A>C ENSP00000251020.4:p.Gly1306=
ENST00000440970.5:c.3627A>C ENSP00000407914.1:p.Gly1209=
ENST00000566102.1:c.460A>C ENSP00000455582.1:n.460A>C
NM_001127892.1:c.3627A>C NP_001121364.1:p.Gly1209=
NM_002968.2:c.3918A>C , LRG_674t1:c.3918A>C NP_002959.2:p.Gly1306=
XM_006721241.2:c.3918A>C XP_006721304.1:p.Gly1306=
XM_011523254.1:c.3918A>C XP_011521556.1:p.Gly1306=
XM_011523255.1:c.3918A>C XP_011521557.1:p.Gly1306=
NM_002968.3:c.3918A>C MANE Select NP_002959.2:p.Gly1306=
NM_001127892.2:c.3627A>C NP_001121364.1:p.Gly1209=