Canonical Allele Identifier: CA431164399

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216412509-T-C
• MyVariant Identifiers: chr2:g.217277232T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412509T>C , CM000664.2:g.216412509T>C	GRCh38
NC_000002.11:g.217277232T>C , CM000664.1:g.217277232T>C	GRCh37
NC_000002.10:g.216985477T>C	NCBI36
NG_009771.1:g.5096T>C , LRG_108:g.5096T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.-190T>C	ENSP00000405077.2:n.-190T>C
ENST00000697898.1:n.127T>C
ENST00000697899.1:c.-235T>C	ENSP00000513470.1:n.-235T>C
ENST00000697900.1:n.42T>C
ENST00000357276.9:c.-235T>C MANE Select	ENSP00000349823.4:n.-235T>C
ENST00000357276.8:c.-235T>C	ENSP00000349823.4:n.-235T>C
ENST00000430374.5:c.-190T>C	ENSP00000405077.1:n.-190T>C
NM_014140.3:c.-235T>C , LRG_108t1:c.-235T>C	NP_054859.2:n.-235T>C
XM_005246631.2:c.-190T>C	XP_005246688.1:n.-190T>C
XM_006712557.1:c.-235T>C	XP_006712620.1:n.-235T>C
NM_014140.4:c.-235T>C MANE Select	NP_054859.2:n.-235T>C