Canonical Allele Identifier: CA500828480

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1146503
• ClinVar RCV Id: RCV001485790
• dbSNP Id: rs2144496738
• gnomAD v4: 17-50168468-C-G
• MyVariant Identifiers: chr17:g.48245829C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168468C>G , CM000679.2:g.50168468C>G	GRCh38
NC_000017.10:g.48245829C>G , CM000679.1:g.48245829C>G	GRCh37
NC_000017.9:g.45600828C>G	NCBI36
NG_008889.1:g.7464C>G , LRG_203:g.7464C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.480C>G	ENSP00000422030.2:p.Ala160=
ENST00000511303.6:n.205C>G
ENST00000512526.2:c.471C>G	ENSP00000426606.2:n.471C>G
ENST00000682109.1:c.360C>G	ENSP00000508041.1:p.Ala120=
ENST00000683226.1:n.190C>G
ENST00000683294.1:c.480C>G	ENSP00000508134.1:p.Ala160=
ENST00000262018.8:c.480C>G MANE Select	ENSP00000262018.3:p.Ala160=
ENST00000262018.7:c.480C>G	ENSP00000262018.3:p.Ala160=
ENST00000344627.10:c.480C>G	ENSP00000345522.6:p.Ala160=
ENST00000502555.5:c.*139C>G	ENSP00000422817.1:n.*139C>G
ENST00000511303.5:c.201C>G	ENSP00000426104.1:p.Ala67=
ENST00000512526.1:c.315C>G
ENST00000513821.5:c.480C>G	ENSP00000426571.1:p.Ala160=
ENST00000513942.5:n.271C>G
ENST00000514934.1:c.*186C>G	ENSP00000423168.1:n.*186C>G
NM_000023.2:c.480C>G , LRG_203t1:c.480C>G	NP_000014.1:p.Ala160=
NM_001135697.1:c.480C>G	NP_001129169.1:p.Ala160=
XM_011525120.1:c.480C>G	XP_011523422.1:p.Ala160=
XM_011525121.1:c.480C>G	XP_011523423.1:p.Ala160=
XM_011525122.1:c.480C>G	XP_011523424.1:p.Ala160=
XM_011525123.1:c.480C>G	XP_011523425.1:p.Ala160=
XM_011525124.1:c.174C>G	XP_011523426.1:p.Ala58=
XR_934517.1:n.546C>G
NM_000023.3:c.480C>G	NP_000014.1:p.Ala160=
NM_001135697.2:c.480C>G	NP_001129169.1:p.Ala160=
NR_135553.1:n.536C>G
XM_011525120.2:c.642C>G	XP_011523422.2:p.Ala214=
XM_011525121.2:c.642C>G	XP_011523423.2:p.Ala214=
XM_011525122.2:c.642C>G	XP_011523424.2:p.Ala214=
XM_011525123.2:c.642C>G	XP_011523425.2:p.Ala214=
XM_011525124.2:c.174C>G	XP_011523426.1:p.Ala58=
XM_024450873.1:c.174C>G	XP_024306641.1:p.Ala58=
XR_002958056.1:n.998C>G
NM_000023.4:c.480C>G MANE Select	NP_000014.1:p.Ala160=
NM_001135697.3:c.480C>G	NP_001129169.1:p.Ala160=
NR_135553.2:n.516C>G