Canonical Allele Identifier: CA500828150

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1118901
• ClinVar RCV Id: RCV001448165
• dbSNP Id: rs2144495376
• MyVariant Identifiers: chr17:g.48245346G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167985G>A , CM000679.2:g.50167985G>A	GRCh38
NC_000017.10:g.48245346G>A , CM000679.1:g.48245346G>A	GRCh37
NC_000017.9:g.45600345G>A	NCBI36
NG_008889.1:g.6981G>A , LRG_203:g.6981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.351G>A	ENSP00000422030.2:p.Arg117=
ENST00000511303.6:n.76G>A
ENST00000512526.2:c.342G>A	ENSP00000426606.2:n.342G>A
ENST00000682109.1:c.231G>A	ENSP00000508041.1:p.Arg77=
ENST00000683226.1:n.61G>A
ENST00000683294.1:c.351G>A	ENSP00000508134.1:p.Arg117=
ENST00000262018.8:c.351G>A MANE Select	ENSP00000262018.3:p.Arg117=
ENST00000262018.7:c.351G>A	ENSP00000262018.3:p.Arg117=
ENST00000344627.10:c.351G>A	ENSP00000345522.6:p.Arg117=
ENST00000502555.5:c.*10G>A	ENSP00000422817.1:n.*10G>A
ENST00000511303.5:c.72G>A	ENSP00000426104.1:p.Arg24=
ENST00000512526.1:c.186G>A
ENST00000513821.5:c.351G>A	ENSP00000426571.1:p.Arg117=
ENST00000513942.5:n.142G>A
ENST00000514934.1:c.*57G>A	ENSP00000423168.1:n.*57G>A
NM_000023.2:c.351G>A , LRG_203t1:c.351G>A	NP_000014.1:p.Arg117=
NM_001135697.1:c.351G>A	NP_001129169.1:p.Arg117=
XM_011525120.1:c.351G>A	XP_011523422.1:p.Arg117=
XM_011525121.1:c.351G>A	XP_011523423.1:p.Arg117=
XM_011525122.1:c.351G>A	XP_011523424.1:p.Arg117=
XM_011525123.1:c.351G>A	XP_011523425.1:p.Arg117=
XM_011525124.1:c.45G>A	XP_011523426.1:p.Arg15=
XR_934517.1:n.417G>A
NM_000023.3:c.351G>A	NP_000014.1:p.Arg117=
NM_001135697.2:c.351G>A	NP_001129169.1:p.Arg117=
NR_135553.1:n.407G>A
XM_011525120.2:c.513G>A	XP_011523422.2:p.Arg171=
XM_011525121.2:c.513G>A	XP_011523423.2:p.Arg171=
XM_011525122.2:c.513G>A	XP_011523424.2:p.Arg171=
XM_011525123.2:c.513G>A	XP_011523425.2:p.Arg171=
XM_011525124.2:c.45G>A	XP_011523426.1:p.Arg15=
XM_024450873.1:c.45G>A	XP_024306641.1:p.Arg15=
XR_002958056.1:n.869G>A
NM_000023.4:c.351G>A MANE Select	NP_000014.1:p.Arg117=
NM_001135697.3:c.351G>A	NP_001129169.1:p.Arg117=
NR_135553.2:n.387G>A