Canonical Allele Identifier: CA431403203

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1695234511
• gnomAD v4: 2-216483037-T-C
• MyVariant Identifiers: chr2:g.217347760T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483037T>C , CM000664.2:g.216483037T>C	GRCh38
NC_000002.11:g.217347760T>C , CM000664.1:g.217347760T>C	GRCh37
NC_000002.10:g.217056005T>C	NCBI36
NG_009771.1:g.75624T>C , LRG_108:g.75624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.*60T>C	ENSP00000405077.2:n.*60T>C
ENST00000697899.1:c.*60T>C	ENSP00000513470.1:n.*60T>C
ENST00000357276.9:c.*60T>C MANE Select	ENSP00000349823.4:n.*60T>C
ENST00000357276.8:c.*60T>C	ENSP00000349823.4:n.*60T>C
NM_001127207.1:c.*60T>C	NP_001120679.1:n.*60T>C
NM_014140.3:c.*60T>C , LRG_108t1:c.*60T>C	NP_054859.2:n.*60T>C
XM_005246631.2:c.*60T>C	XP_005246688.1:n.*60T>C
XM_005246632.1:c.*60T>C	XP_005246689.1:n.*60T>C
XM_006712557.1:c.*60T>C	XP_006712620.1:n.*60T>C
XM_005246632.2:c.*60T>C	XP_005246689.1:n.*60T>C
XM_017004228.2:c.*60T>C	XP_016859717.1:n.*60T>C
NM_001127207.2:c.*60T>C	NP_001120679.1:n.*60T>C
NM_014140.4:c.*60T>C MANE Select	NP_054859.2:n.*60T>C