Canonical Allele Identifier: CA431164420

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1693480923
• gnomAD v3: 2-216412512-G-C
• gnomAD v4: 2-216412512-G-C
• MyVariant Identifiers: chr2:g.217277235G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412512G>C , CM000664.2:g.216412512G>C	GRCh38
NC_000002.11:g.217277235G>C , CM000664.1:g.217277235G>C	GRCh37
NC_000002.10:g.216985480G>C	NCBI36
NG_009771.1:g.5099G>C , LRG_108:g.5099G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.-187G>C	ENSP00000405077.2:n.-187G>C
ENST00000444508.6:c.-318G>C	ENSP00000398969.2:n.-318G>C
ENST00000697898.1:n.130G>C
ENST00000697899.1:c.-232G>C	ENSP00000513470.1:n.-232G>C
ENST00000697900.1:n.45G>C
ENST00000697901.1:c.-232G>C	ENSP00000513471.1:n.-232G>C
ENST00000697902.1:n.1G>C
ENST00000697903.1:c.-232G>C	ENSP00000513472.1:n.-232G>C
ENST00000357276.9:c.-232G>C MANE Select	ENSP00000349823.4:n.-232G>C
ENST00000357276.8:c.-232G>C	ENSP00000349823.4:n.-232G>C
ENST00000430374.5:c.-187G>C	ENSP00000405077.1:n.-187G>C
ENST00000444508.5:c.-318G>C	ENSP00000398969.1:n.-318G>C
NM_014140.3:c.-232G>C , LRG_108t1:c.-232G>C	NP_054859.2:n.-232G>C
XM_005246631.2:c.-187G>C	XP_005246688.1:n.-187G>C
XM_005246632.1:c.-318G>C	XP_005246689.1:n.-318G>C
XM_006712557.1:c.-232G>C	XP_006712620.1:n.-232G>C
NM_014140.4:c.-232G>C MANE Select	NP_054859.2:n.-232G>C