Canonical Allele Identifier: CA2097653
Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260346
dbSNP Id: rs764441226

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415469T>C , CM000664.2:g.216415469T>C GRCh38
NC_000002.11:g.217280192T>C , CM000664.1:g.217280192T>C GRCh37
NC_000002.10:g.216988437T>C NCBI36
NG_009771.1:g.8056T>C , LRG_108:g.8056T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357276.9:c.765T>C MANE Select ENSP00000349823.4:p.Asn255=
ENST00000357276.8:c.765T>C ENSP00000349823.4:p.Asn255=
ENST00000358207.9:c.765T>C ENSP00000350940.5:p.Asn255=
ENST00000392128.6:n.357T>C ENSP00000375974.2:p.Asn119=
ENST00000427645.5:n.462T>C ENSP00000392997.1:p.Asn154=
NM_001127207.1:c.765T>C NP_001120679.1:p.Asn255=
NM_014140.3:c.765T>C , LRG_108t1:c.765T>C NP_054859.2:p.Asn255=
XM_005246631.2:c.765T>C XP_005246688.1:p.Asn255=
XM_005246632.1:c.765T>C XP_005246689.1:p.Asn255=
XM_006712557.1:c.765T>C XP_006712620.1:p.Asn255=
XM_005246632.2:c.765T>C XP_005246689.1:p.Asn255=
XM_017004228.2:c.-152T>C XP_016859717.1:p.=
NM_001127207.2:c.765T>C NP_001120679.1:p.Asn255=
NM_014140.4:c.765T>C MANE Select NP_054859.2:p.Asn255=