Canonical Allele Identifier: CA431165499

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216412618-C-A
• MyVariant Identifiers: chr2:g.217277341C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412618C>A , CM000664.2:g.216412618C>A	GRCh38
NC_000002.11:g.217277341C>A , CM000664.1:g.217277341C>A	GRCh37
NC_000002.10:g.216985586C>A	NCBI36
NG_009771.1:g.5205C>A , LRG_108:g.5205C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.-195C>A	ENSP00000394410.2:n.-195C>A
ENST00000430374.6:c.-96+15C>A	ENSP00000405077.2:n.-96+15C>A
ENST00000444508.6:c.-212C>A	ENSP00000398969.2:n.-212C>A
ENST00000697898.1:n.236C>A
ENST00000697899.1:c.-126C>A	ENSP00000513470.1:n.-126C>A
ENST00000697900.1:n.151C>A
ENST00000697901.1:c.-126C>A	ENSP00000513471.1:n.-126C>A
ENST00000697902.1:n.107C>A
ENST00000697903.1:c.-126C>A	ENSP00000513472.1:n.-126C>A
ENST00000357276.9:c.-126C>A MANE Select	ENSP00000349823.4:n.-126C>A
ENST00000357276.8:c.-126C>A	ENSP00000349823.4:n.-126C>A
ENST00000425815.5:c.-195C>A	ENSP00000394410.1:n.-195C>A
ENST00000430374.5:c.-96+15C>A	ENSP00000405077.1:n.-96+15C>A
ENST00000444508.5:c.-212C>A	ENSP00000398969.1:n.-212C>A
NM_014140.3:c.-126C>A , LRG_108t1:c.-126C>A	NP_054859.2:n.-126C>A
XM_005246631.2:c.-96+15C>A	XP_005246688.1:n.-96+15C>A
XM_005246632.1:c.-212C>A	XP_005246689.1:n.-212C>A
XM_006712557.1:c.-126C>A	XP_006712620.1:n.-126C>A
XM_005246632.2:c.-212C>A	XP_005246689.1:n.-212C>A
NM_014140.4:c.-126C>A MANE Select	NP_054859.2:n.-126C>A