Canonical Allele Identifier: CA431165543

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216412621-A-G
• MyVariant Identifiers: chr2:g.217277344A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412621A>G , CM000664.2:g.216412621A>G	GRCh38
NC_000002.11:g.217277344A>G , CM000664.1:g.217277344A>G	GRCh37
NC_000002.10:g.216985589A>G	NCBI36
NG_009771.1:g.5208A>G , LRG_108:g.5208A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.-192A>G	ENSP00000394410.2:n.-192A>G
ENST00000430374.6:c.-96+18A>G	ENSP00000405077.2:n.-96+18A>G
ENST00000444508.6:c.-209A>G	ENSP00000398969.2:n.-209A>G
ENST00000697898.1:n.239A>G
ENST00000697899.1:c.-123A>G	ENSP00000513470.1:n.-123A>G
ENST00000697900.1:n.154A>G
ENST00000697901.1:c.-123A>G	ENSP00000513471.1:n.-123A>G
ENST00000697902.1:n.110A>G
ENST00000697903.1:c.-123A>G	ENSP00000513472.1:n.-123A>G
ENST00000357276.9:c.-123A>G MANE Select	ENSP00000349823.4:n.-123A>G
ENST00000357276.8:c.-123A>G	ENSP00000349823.4:n.-123A>G
ENST00000425815.5:c.-192A>G	ENSP00000394410.1:n.-192A>G
ENST00000430374.5:c.-96+18A>G	ENSP00000405077.1:n.-96+18A>G
ENST00000444508.5:c.-209A>G	ENSP00000398969.1:n.-209A>G
NM_014140.3:c.-123A>G , LRG_108t1:c.-123A>G	NP_054859.2:n.-123A>G
XM_005246631.2:c.-96+18A>G	XP_005246688.1:n.-96+18A>G
XM_005246632.1:c.-209A>G	XP_005246689.1:n.-209A>G
XM_006712557.1:c.-123A>G	XP_006712620.1:n.-123A>G
XM_005246632.2:c.-209A>G	XP_005246689.1:n.-209A>G
NM_014140.4:c.-123A>G MANE Select	NP_054859.2:n.-123A>G