Canonical Allele Identifier: CA246512

Gene: SGCA

Linked Data

• ClinVar Variation Id: 198031
• ClinVar RCV Id: RCV000723501 ; RCV000648057
• dbSNP Id: rs760608643
• ExAC: 17:48246568 G / A
• gnomAD v2: 17-48246568-G-A
• gnomAD v3: 17-50169207-G-A
• gnomAD v4: 17-50169207-G-A
• COSMIC: COSM4067562 ; COSM4067563
• MyVariant Identifiers: chr17:g.48246568G>A (hg19) ; chr17:g.50169207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169207G>A , CM000679.2:g.50169207G>A	GRCh38
NC_000017.10:g.48246568G>A , CM000679.1:g.48246568G>A	GRCh37
NC_000017.9:g.45601567G>A	NCBI36
NG_008889.1:g.8203G>A , LRG_203:g.8203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.597+103G>A	ENSP00000422030.2:n.597+103G>A
ENST00000511303.6:n.309+635G>A
ENST00000512526.2:c.575+635G>A	ENSP00000426606.2:n.575+635G>A
ENST00000682109.1:c.580G>A	ENSP00000508041.1:p.Asp194Asn
ENST00000683226.1:n.410G>A
ENST00000683294.1:c.700G>A	ENSP00000508134.1:p.Asp234Asn
ENST00000262018.8:c.700G>A MANE Select	ENSP00000262018.3:p.Asp234Asn
ENST00000262018.7:c.700G>A	ENSP00000262018.3:p.Asp234Asn
ENST00000344627.10:c.584+635G>A	ENSP00000345522.6:n.584+635G>A
ENST00000502555.5:c.*359G>A	ENSP00000422817.1:n.*359G>A
ENST00000504073.1:c.64+103G>A
ENST00000511303.5:c.305+635G>A	ENSP00000426104.1:n.305+635G>A
ENST00000512526.1:c.419+635G>A
ENST00000513821.5:c.700G>A	ENSP00000426571.1:p.Asp234Asn
ENST00000513942.5:n.375+635G>A
NM_000023.2:c.700G>A , LRG_203t1:c.700G>A	NP_000014.1:p.Asp234Asn
NM_001135697.1:c.584+635G>A	NP_001129169.1:n.584+635G>A
XM_011525120.1:c.700G>A	XP_011523422.1:p.Asp234Asn
XM_011525121.1:c.597+103G>A	XP_011523423.1:n.597+103G>A
XM_011525122.1:c.700G>A	XP_011523424.1:p.Asp234Asn
XM_011525123.1:c.584+635G>A	XP_011523425.1:n.584+635G>A
XM_011525124.1:c.394G>A	XP_011523426.1:p.Asp132Asn
XR_934517.1:n.766G>A
NM_000023.3:c.700G>A	NP_000014.1:p.Asp234Asn
NM_001135697.2:c.584+635G>A	NP_001129169.1:n.584+635G>A
NR_135553.1:n.756G>A
XM_011525120.2:c.862G>A	XP_011523422.2:p.Asp288Asn
XM_011525121.2:c.759+103G>A	XP_011523423.2:n.759+103G>A
XM_011525122.2:c.862G>A	XP_011523424.2:p.Asp288Asn
XM_011525123.2:c.746+635G>A	XP_011523425.2:n.746+635G>A
XM_011525124.2:c.394G>A	XP_011523426.1:p.Asp132Asn
XM_024450873.1:c.394G>A	XP_024306641.1:p.Asp132Asn
XR_002958056.1:n.1218G>A
NM_000023.4:c.700G>A MANE Select	NP_000014.1:p.Asp234Asn
NM_001135697.3:c.584+635G>A	NP_001129169.1:n.584+635G>A
NR_135553.2:n.736G>A