Canonical Allele Identifier: CA253023
Gene: SMARCAL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4173
ClinVar RCV Id: RCV000004390
dbSNP Id: rs119473035

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216414804C>T , CM000664.2:g.216414804C>T GRCh38
NC_000002.11:g.217279527C>T , CM000664.1:g.217279527C>T GRCh37
NC_000002.10:g.216987772C>T NCBI36
NG_009771.1:g.7391C>T , LRG_108:g.7391C>T

Transcript Alleles

HGVS Amino-acid change
NM_001127207.1:c.100C>T VV NP_001120679.1:p.Gln34Ter
NM_014140.3:c.100C>T , LRG_108t1:c.100C>T NP_054859.2:p.Gln34Ter
XM_005246631.2:c.100C>T XP_005246688.1:p.Gln34Ter
XM_005246632.1:c.100C>T XP_005246689.1:p.Gln34Ter
XM_006712557.1:c.100C>T XP_006712620.1:p.Gln34Ter
XM_005246632.2:c.100C>T
XM_017004228.2:c.-817C>T XP_016859717.1:p.=
ENST00000357276.8:c.100C>T ENSP00000349823.4:p.Gln34Ter
ENST00000358207.9:c.100C>T ENSP00000350940.5:p.Gln34Ter
ENST00000430374.5:c.100C>T ENSP00000405077.1:p.Gln34Ter
ENST00000434435.1:c.100C>T ENSP00000402967.1:p.Gln34Ter
ENST00000444508.5:c.100C>T ENSP00000398969.1:p.Gln34Ter