Canonical Allele Identifier: CA500826277

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1157080
• ClinVar RCV Id: RCV001499969
• dbSNP Id: rs2144493029
• MyVariant Identifiers: chr17:g.48244736G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167375G>C , CM000679.2:g.50167375G>C	GRCh38
NC_000017.10:g.48244736G>C , CM000679.1:g.48244736G>C	GRCh37
NC_000017.9:g.45599735G>C	NCBI36
NG_008889.1:g.6371G>C , LRG_203:g.6371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.45G>C	ENSP00000422030.2:p.Leu15=
ENST00000511303.6:n.38-572G>C
ENST00000512526.2:c.45G>C	ENSP00000426606.2:p.Leu15=
ENST00000682109.1:c.38-207G>C	ENSP00000508041.1:n.38-207G>C
ENST00000683294.1:c.45G>C	ENSP00000508134.1:p.Leu15=
ENST00000262018.8:c.45G>C MANE Select	ENSP00000262018.3:p.Leu15=
ENST00000262018.7:c.45G>C	ENSP00000262018.3:p.Leu15=
ENST00000344627.10:c.45G>C	ENSP00000345522.6:p.Leu15=
ENST00000502555.5:c.45G>C	ENSP00000422817.1:p.Leu15=
ENST00000511303.5:c.34-572G>C	ENSP00000426104.1:n.34-572G>C
ENST00000513821.5:c.45G>C	ENSP00000426571.1:p.Leu15=
ENST00000513942.5:n.104-572G>C
ENST00000514934.1:c.104G>C	ENSP00000423168.1:p.Trp35Ser
NM_000023.2:c.45G>C , LRG_203t1:c.45G>C	NP_000014.1:p.Leu15=
NM_001135697.1:c.45G>C	NP_001129169.1:p.Leu15=
XM_011525120.1:c.45G>C	XP_011523422.1:p.Leu15=
XM_011525121.1:c.45G>C	XP_011523423.1:p.Leu15=
XM_011525122.1:c.45G>C	XP_011523424.1:p.Leu15=
XM_011525123.1:c.45G>C	XP_011523425.1:p.Leu15=
XM_011525124.1:c.-107G>C	XP_011523426.1:n.-107G>C
XR_934517.1:n.111G>C
NM_000023.3:c.45G>C	NP_000014.1:p.Leu15=
NM_001135697.2:c.45G>C	NP_001129169.1:p.Leu15=
NR_135553.1:n.101G>C
XM_011525120.2:c.207G>C	XP_011523422.2:p.Leu69=
XM_011525121.2:c.207G>C	XP_011523423.2:p.Leu69=
XM_011525122.2:c.207G>C	XP_011523424.2:p.Leu69=
XM_011525123.2:c.207G>C	XP_011523425.2:p.Leu69=
XM_011525124.2:c.-107G>C	XP_011523426.1:n.-107G>C
XM_024450873.1:c.-107G>C	XP_024306641.1:n.-107G>C
XR_002958056.1:n.563G>C
NM_000023.4:c.45G>C MANE Select	NP_000014.1:p.Leu15=
NM_001135697.3:c.45G>C	NP_001129169.1:p.Leu15=
NR_135553.2:n.81G>C