Canonical Allele Identifier: CA500828358

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1110079
• ClinVar RCV Id: RCV001436165
• dbSNP Id: rs758472374
• MyVariant Identifiers: chr17:g.48245742G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168381G>C , CM000679.2:g.50168381G>C	GRCh38
NC_000017.10:g.48245742G>C , CM000679.1:g.48245742G>C	GRCh37
NC_000017.9:g.45600741G>C	NCBI36
NG_008889.1:g.7377G>C , LRG_203:g.7377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.393G>C	ENSP00000422030.2:p.Leu131=
ENST00000511303.6:n.118G>C
ENST00000512526.2:c.384G>C	ENSP00000426606.2:n.384G>C
ENST00000682109.1:c.273G>C	ENSP00000508041.1:p.Leu91=
ENST00000683226.1:n.103G>C
ENST00000683294.1:c.393G>C	ENSP00000508134.1:p.Leu131=
ENST00000262018.8:c.393G>C MANE Select	ENSP00000262018.3:p.Leu131=
ENST00000262018.7:c.393G>C	ENSP00000262018.3:p.Leu131=
ENST00000344627.10:c.393G>C	ENSP00000345522.6:p.Leu131=
ENST00000502555.5:c.*52G>C	ENSP00000422817.1:n.*52G>C
ENST00000511303.5:c.114G>C	ENSP00000426104.1:p.Leu38=
ENST00000512526.1:c.228G>C
ENST00000513821.5:c.393G>C	ENSP00000426571.1:p.Leu131=
ENST00000513942.5:n.184G>C
ENST00000514934.1:c.*99G>C	ENSP00000423168.1:n.*99G>C
NM_000023.2:c.393G>C , LRG_203t1:c.393G>C	NP_000014.1:p.Leu131=
NM_001135697.1:c.393G>C	NP_001129169.1:p.Leu131=
XM_011525120.1:c.393G>C	XP_011523422.1:p.Leu131=
XM_011525121.1:c.393G>C	XP_011523423.1:p.Leu131=
XM_011525122.1:c.393G>C	XP_011523424.1:p.Leu131=
XM_011525123.1:c.393G>C	XP_011523425.1:p.Leu131=
XM_011525124.1:c.87G>C	XP_011523426.1:p.Leu29=
XR_934517.1:n.459G>C
NM_000023.3:c.393G>C	NP_000014.1:p.Leu131=
NM_001135697.2:c.393G>C	NP_001129169.1:p.Leu131=
NR_135553.1:n.449G>C
XM_011525120.2:c.555G>C	XP_011523422.2:p.Leu185=
XM_011525121.2:c.555G>C	XP_011523423.2:p.Leu185=
XM_011525122.2:c.555G>C	XP_011523424.2:p.Leu185=
XM_011525123.2:c.555G>C	XP_011523425.2:p.Leu185=
XM_011525124.2:c.87G>C	XP_011523426.1:p.Leu29=
XM_024450873.1:c.87G>C	XP_024306641.1:p.Leu29=
XR_002958056.1:n.911G>C
NM_000023.4:c.393G>C MANE Select	NP_000014.1:p.Leu131=
NM_001135697.3:c.393G>C	NP_001129169.1:p.Leu131=
NR_135553.2:n.429G>C