Canonical Allele Identifier: CA400177746

Gene: SGCA

Linked Data

• dbSNP Id: rs1435014211
• MyVariant Identifiers: chr17:g.48245051T>G (hg19) ; chr17:g.50167690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167690T>G , CM000679.2:g.50167690T>G	GRCh38
NC_000017.10:g.48245051T>G , CM000679.1:g.48245051T>G	GRCh37
NC_000017.9:g.45600050T>G	NCBI36
NG_008889.1:g.6686T>G , LRG_203:g.6686T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.266T>G	ENSP00000422030.2:p.Leu89Arg
ENST00000511303.6:n.38-257T>G
ENST00000512526.2:c.266T>G	ENSP00000426606.2:p.Leu89Arg
ENST00000682109.1:c.146T>G	ENSP00000508041.1:p.Leu49Arg
ENST00000683294.1:c.266T>G	ENSP00000508134.1:p.Leu89Arg
ENST00000262018.8:c.266T>G MANE Select	ENSP00000262018.3:p.Leu89Arg
ENST00000262018.7:c.266T>G	ENSP00000262018.3:p.Leu89Arg
ENST00000344627.10:c.266T>G	ENSP00000345522.6:p.Leu89Arg
ENST00000502555.5:c.157+203T>G	ENSP00000422817.1:n.157+203T>G
ENST00000511303.5:c.34-257T>G	ENSP00000426104.1:n.34-257T>G
ENST00000512526.1:c.110T>G
ENST00000513821.5:c.266T>G	ENSP00000426571.1:p.Leu89Arg
ENST00000513942.5:n.104-257T>G
ENST00000514934.1:c.*18+203T>G	ENSP00000423168.1:n.*18+203T>G
NM_000023.2:c.266T>G , LRG_203t1:c.266T>G	NP_000014.1:p.Leu89Arg
NM_001135697.1:c.266T>G	NP_001129169.1:p.Leu89Arg
XM_011525120.1:c.266T>G	XP_011523422.1:p.Leu89Arg
XM_011525121.1:c.266T>G	XP_011523423.1:p.Leu89Arg
XM_011525122.1:c.266T>G	XP_011523424.1:p.Leu89Arg
XM_011525123.1:c.266T>G	XP_011523425.1:p.Leu89Arg
XM_011525124.1:c.6+203T>G	XP_011523426.1:n.6+203T>G
XR_934517.1:n.332T>G
NM_000023.3:c.266T>G	NP_000014.1:p.Leu89Arg
NM_001135697.2:c.266T>G	NP_001129169.1:p.Leu89Arg
NR_135553.1:n.322T>G
XM_011525120.2:c.428T>G	XP_011523422.2:p.Leu143Arg
XM_011525121.2:c.428T>G	XP_011523423.2:p.Leu143Arg
XM_011525122.2:c.428T>G	XP_011523424.2:p.Leu143Arg
XM_011525123.2:c.428T>G	XP_011523425.2:p.Leu143Arg
XM_011525124.2:c.6+203T>G	XP_011523426.1:n.6+203T>G
XM_024450873.1:c.6+203T>G	XP_024306641.1:n.6+203T>G
XR_002958056.1:n.784T>G
NM_000023.4:c.266T>G MANE Select	NP_000014.1:p.Leu89Arg
NM_001135697.3:c.266T>G	NP_001129169.1:p.Leu89Arg
NR_135553.2:n.302T>G