Canonical Allele Identifier: CA10604097

Gene: SGCA

Linked Data

• ClinVar Variation Id: 282191
• ClinVar RCV Id: RCV000372348
• dbSNP Id: rs886042335
• MyVariant Identifiers: chr17:g.48245354T>G (hg19) ; chr17:g.50167993T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167993T>G , CM000679.2:g.50167993T>G	GRCh38
NC_000017.10:g.48245354T>G , CM000679.1:g.48245354T>G	GRCh37
NC_000017.9:g.45600353T>G	NCBI36
NG_008889.1:g.6989T>G , LRG_203:g.6989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.359T>G	ENSP00000422030.2:p.Leu120Arg
ENST00000511303.6:n.84T>G
ENST00000512526.2:c.350T>G	ENSP00000426606.2:n.350T>G
ENST00000682109.1:c.239T>G	ENSP00000508041.1:p.Leu80Arg
ENST00000683226.1:n.69T>G
ENST00000683294.1:c.359T>G	ENSP00000508134.1:p.Leu120Arg
ENST00000262018.8:c.359T>G MANE Select	ENSP00000262018.3:p.Leu120Arg
ENST00000262018.7:c.359T>G	ENSP00000262018.3:p.Leu120Arg
ENST00000344627.10:c.359T>G	ENSP00000345522.6:p.Leu120Arg
ENST00000502555.5:c.*18T>G	ENSP00000422817.1:n.*18T>G
ENST00000511303.5:c.80T>G	ENSP00000426104.1:p.Leu27Arg
ENST00000512526.1:c.194T>G
ENST00000513821.5:c.359T>G	ENSP00000426571.1:p.Leu120Arg
ENST00000513942.5:n.150T>G
ENST00000514934.1:c.*65T>G	ENSP00000423168.1:n.*65T>G
NM_000023.2:c.359T>G , LRG_203t1:c.359T>G	NP_000014.1:p.Leu120Arg
NM_001135697.1:c.359T>G	NP_001129169.1:p.Leu120Arg
XM_011525120.1:c.359T>G	XP_011523422.1:p.Leu120Arg
XM_011525121.1:c.359T>G	XP_011523423.1:p.Leu120Arg
XM_011525122.1:c.359T>G	XP_011523424.1:p.Leu120Arg
XM_011525123.1:c.359T>G	XP_011523425.1:p.Leu120Arg
XM_011525124.1:c.53T>G	XP_011523426.1:p.Leu18Arg
XR_934517.1:n.425T>G
NM_000023.3:c.359T>G	NP_000014.1:p.Leu120Arg
NM_001135697.2:c.359T>G	NP_001129169.1:p.Leu120Arg
NR_135553.1:n.415T>G
XM_011525120.2:c.521T>G	XP_011523422.2:p.Leu174Arg
XM_011525121.2:c.521T>G	XP_011523423.2:p.Leu174Arg
XM_011525122.2:c.521T>G	XP_011523424.2:p.Leu174Arg
XM_011525123.2:c.521T>G	XP_011523425.2:p.Leu174Arg
XM_011525124.2:c.53T>G	XP_011523426.1:p.Leu18Arg
XM_024450873.1:c.53T>G	XP_024306641.1:p.Leu18Arg
XR_002958056.1:n.877T>G
NM_000023.4:c.359T>G MANE Select	NP_000014.1:p.Leu120Arg
NM_001135697.3:c.359T>G	NP_001129169.1:p.Leu120Arg
NR_135553.2:n.395T>G