Canonical Allele Identifier: CA8643770

Gene: SGCA

Linked Data

• ClinVar Variation Id: 796649
• ClinVar RCV Id: RCV000980056
• dbSNP Id: rs752288242
• ExAC: 17:48245322 T / C
• gnomAD v2: 17-48245322-T-C
• gnomAD v4: 17-50167961-T-C
• MyVariant Identifiers: chr17:g.48245322T>C (hg19) ; chr17:g.50167961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167961T>C , CM000679.2:g.50167961T>C	GRCh38
NC_000017.10:g.48245322T>C , CM000679.1:g.48245322T>C	GRCh37
NC_000017.9:g.45600321T>C	NCBI36
NG_008889.1:g.6957T>C , LRG_203:g.6957T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.327T>C	ENSP00000422030.2:p.Asn109=
ENST00000511303.6:n.52T>C
ENST00000512526.2:c.318T>C	ENSP00000426606.2:p.Asn106=
ENST00000682109.1:c.207T>C	ENSP00000508041.1:p.Asn69=
ENST00000683226.1:n.37T>C
ENST00000683294.1:c.327T>C	ENSP00000508134.1:p.Asn109=
ENST00000262018.8:c.327T>C MANE Select	ENSP00000262018.3:p.Asn109=
ENST00000262018.7:c.327T>C	ENSP00000262018.3:p.Asn109=
ENST00000344627.10:c.327T>C	ENSP00000345522.6:p.Asn109=
ENST00000502555.5:c.172T>C	ENSP00000422817.1:p.Ser58Pro
ENST00000511303.5:c.48T>C	ENSP00000426104.1:p.Asn16=
ENST00000512526.1:c.162T>C
ENST00000513821.5:c.327T>C	ENSP00000426571.1:p.Asn109=
ENST00000513942.5:n.118T>C
ENST00000514934.1:c.*33T>C	ENSP00000423168.1:n.*33T>C
NM_000023.2:c.327T>C , LRG_203t1:c.327T>C	NP_000014.1:p.Asn109=
NM_001135697.1:c.327T>C	NP_001129169.1:p.Asn109=
XM_011525120.1:c.327T>C	XP_011523422.1:p.Asn109=
XM_011525121.1:c.327T>C	XP_011523423.1:p.Asn109=
XM_011525122.1:c.327T>C	XP_011523424.1:p.Asn109=
XM_011525123.1:c.327T>C	XP_011523425.1:p.Asn109=
XM_011525124.1:c.21T>C	XP_011523426.1:p.Asn7=
XR_934517.1:n.393T>C
NM_000023.3:c.327T>C	NP_000014.1:p.Asn109=
NM_001135697.2:c.327T>C	NP_001129169.1:p.Asn109=
NR_135553.1:n.383T>C
XM_011525120.2:c.489T>C	XP_011523422.2:p.Asn163=
XM_011525121.2:c.489T>C	XP_011523423.2:p.Asn163=
XM_011525122.2:c.489T>C	XP_011523424.2:p.Asn163=
XM_011525123.2:c.489T>C	XP_011523425.2:p.Asn163=
XM_011525124.2:c.21T>C	XP_011523426.1:p.Asn7=
XM_024450873.1:c.21T>C	XP_024306641.1:p.Asn7=
XR_002958056.1:n.845T>C
NM_000023.4:c.327T>C MANE Select	NP_000014.1:p.Asn109=
NM_001135697.3:c.327T>C	NP_001129169.1:p.Asn109=
NR_135553.2:n.363T>C