Canonical Allele Identifier: CA400179814

Gene: SGCA

Linked Data

• ClinVar Variation Id: 554420
• ClinVar RCV Id: RCV000670049 ; RCV003155270 ; RCV003480755
• dbSNP Id: rs372210292
• gnomAD v4: 17-50168397-G-C
• MyVariant Identifiers: chr17:g.48245758G>C (hg19) ; chr17:g.50168397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168397G>C , CM000679.2:g.50168397G>C	GRCh38
NC_000017.10:g.48245758G>C , CM000679.1:g.48245758G>C	GRCh37
NC_000017.9:g.45600757G>C	NCBI36
NG_008889.1:g.7393G>C , LRG_203:g.7393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.409G>C	ENSP00000422030.2:p.Glu137Gln
ENST00000511303.6:n.134G>C
ENST00000512526.2:c.400G>C	ENSP00000426606.2:n.400G>C
ENST00000682109.1:c.289G>C	ENSP00000508041.1:p.Glu97Gln
ENST00000683226.1:n.119G>C
ENST00000683294.1:c.409G>C	ENSP00000508134.1:p.Glu137Gln
ENST00000262018.8:c.409G>C MANE Select	ENSP00000262018.3:p.Glu137Gln
ENST00000262018.7:c.409G>C	ENSP00000262018.3:p.Glu137Gln
ENST00000344627.10:c.409G>C	ENSP00000345522.6:p.Glu137Gln
ENST00000502555.5:c.*68G>C	ENSP00000422817.1:n.*68G>C
ENST00000511303.5:c.130G>C	ENSP00000426104.1:p.Glu44Gln
ENST00000512526.1:c.244G>C
ENST00000513821.5:c.409G>C	ENSP00000426571.1:p.Glu137Gln
ENST00000513942.5:n.200G>C
ENST00000514934.1:c.*115G>C	ENSP00000423168.1:n.*115G>C
NM_000023.2:c.409G>C , LRG_203t1:c.409G>C	NP_000014.1:p.Glu137Gln
NM_001135697.1:c.409G>C	NP_001129169.1:p.Glu137Gln
XM_011525120.1:c.409G>C	XP_011523422.1:p.Glu137Gln
XM_011525121.1:c.409G>C	XP_011523423.1:p.Glu137Gln
XM_011525122.1:c.409G>C	XP_011523424.1:p.Glu137Gln
XM_011525123.1:c.409G>C	XP_011523425.1:p.Glu137Gln
XM_011525124.1:c.103G>C	XP_011523426.1:p.Glu35Gln
XR_934517.1:n.475G>C
NM_000023.3:c.409G>C	NP_000014.1:p.Glu137Gln
NM_001135697.2:c.409G>C	NP_001129169.1:p.Glu137Gln
NR_135553.1:n.465G>C
XM_011525120.2:c.571G>C	XP_011523422.2:p.Glu191Gln
XM_011525121.2:c.571G>C	XP_011523423.2:p.Glu191Gln
XM_011525122.2:c.571G>C	XP_011523424.2:p.Glu191Gln
XM_011525123.2:c.571G>C	XP_011523425.2:p.Glu191Gln
XM_011525124.2:c.103G>C	XP_011523426.1:p.Glu35Gln
XM_024450873.1:c.103G>C	XP_024306641.1:p.Glu35Gln
XR_002958056.1:n.927G>C
NM_000023.4:c.409G>C MANE Select	NP_000014.1:p.Glu137Gln
NM_001135697.3:c.409G>C	NP_001129169.1:p.Glu137Gln
NR_135553.2:n.445G>C