Canonical Allele Identifier: CA431164387

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1271122083
• gnomAD v2: 2-217277230-A-G
• gnomAD v3: 2-216412507-A-G
• gnomAD v4: 2-216412507-A-G
• MyVariant Identifiers: chr2:g.217277230A>G (hg19) ; chr2:g.216412507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412507A>G , CM000664.2:g.216412507A>G	GRCh38
NC_000002.11:g.217277230A>G , CM000664.1:g.217277230A>G	GRCh37
NC_000002.10:g.216985475A>G	NCBI36
NG_009771.1:g.5094A>G , LRG_108:g.5094A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.-192A>G	ENSP00000405077.2:n.-192A>G
ENST00000697898.1:n.125A>G
ENST00000697899.1:c.-237A>G	ENSP00000513470.1:n.-237A>G
ENST00000697900.1:n.40A>G
ENST00000357276.9:c.-237A>G MANE Select	ENSP00000349823.4:n.-237A>G
ENST00000357276.8:c.-237A>G	ENSP00000349823.4:n.-237A>G
ENST00000430374.5:c.-192A>G	ENSP00000405077.1:n.-192A>G
NM_014140.3:c.-237A>G , LRG_108t1:c.-237A>G	NP_054859.2:n.-237A>G
XM_005246631.2:c.-192A>G	XP_005246688.1:n.-192A>G
XM_006712557.1:c.-237A>G	XP_006712620.1:n.-237A>G
NM_014140.4:c.-237A>G MANE Select	NP_054859.2:n.-237A>G