Canonical Allele Identifier: CA431165494

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1693486043
• gnomAD v4: 2-216412617-G-A
• MyVariant Identifiers: chr2:g.217277340G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412617G>A , CM000664.2:g.216412617G>A	GRCh38
NC_000002.11:g.217277340G>A , CM000664.1:g.217277340G>A	GRCh37
NC_000002.10:g.216985585G>A	NCBI36
NG_009771.1:g.5204G>A , LRG_108:g.5204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.-196G>A	ENSP00000394410.2:n.-196G>A
ENST00000430374.6:c.-96+14G>A	ENSP00000405077.2:n.-96+14G>A
ENST00000444508.6:c.-213G>A	ENSP00000398969.2:n.-213G>A
ENST00000697898.1:n.235G>A
ENST00000697899.1:c.-127G>A	ENSP00000513470.1:n.-127G>A
ENST00000697900.1:n.150G>A
ENST00000697901.1:c.-127G>A	ENSP00000513471.1:n.-127G>A
ENST00000697902.1:n.106G>A
ENST00000697903.1:c.-127G>A	ENSP00000513472.1:n.-127G>A
ENST00000357276.9:c.-127G>A MANE Select	ENSP00000349823.4:n.-127G>A
ENST00000357276.8:c.-127G>A	ENSP00000349823.4:n.-127G>A
ENST00000425815.5:c.-196G>A	ENSP00000394410.1:n.-196G>A
ENST00000430374.5:c.-96+14G>A	ENSP00000405077.1:n.-96+14G>A
ENST00000444508.5:c.-213G>A	ENSP00000398969.1:n.-213G>A
NM_014140.3:c.-127G>A , LRG_108t1:c.-127G>A	NP_054859.2:n.-127G>A
XM_005246631.2:c.-96+14G>A	XP_005246688.1:n.-96+14G>A
XM_005246632.1:c.-213G>A	XP_005246689.1:n.-213G>A
XM_006712557.1:c.-127G>A	XP_006712620.1:n.-127G>A
XM_005246632.2:c.-213G>A	XP_005246689.1:n.-213G>A
NM_014140.4:c.-127G>A MANE Select	NP_054859.2:n.-127G>A