Canonical Allele Identifier: CA500828489

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1093238
• ClinVar RCV Id: RCV001413325
• dbSNP Id: rs1598267271
• gnomAD v4: 17-50168474-G-A
• MyVariant Identifiers: chr17:g.48245835G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168474G>A , CM000679.2:g.50168474G>A	GRCh38
NC_000017.10:g.48245835G>A , CM000679.1:g.48245835G>A	GRCh37
NC_000017.9:g.45600834G>A	NCBI36
NG_008889.1:g.7470G>A , LRG_203:g.7470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.486G>A	ENSP00000422030.2:p.Gly162=
ENST00000511303.6:n.211G>A
ENST00000512526.2:c.477G>A	ENSP00000426606.2:n.477G>A
ENST00000682109.1:c.366G>A	ENSP00000508041.1:p.Gly122=
ENST00000683226.1:n.196G>A
ENST00000683294.1:c.486G>A	ENSP00000508134.1:p.Gly162=
ENST00000262018.8:c.486G>A MANE Select	ENSP00000262018.3:p.Gly162=
ENST00000262018.7:c.486G>A	ENSP00000262018.3:p.Gly162=
ENST00000344627.10:c.486G>A	ENSP00000345522.6:p.Gly162=
ENST00000502555.5:c.*145G>A	ENSP00000422817.1:n.*145G>A
ENST00000511303.5:c.207G>A	ENSP00000426104.1:p.Gly69=
ENST00000512526.1:c.321G>A
ENST00000513821.5:c.486G>A	ENSP00000426571.1:p.Gly162=
ENST00000513942.5:n.277G>A
ENST00000514934.1:c.*192G>A	ENSP00000423168.1:n.*192G>A
NM_000023.2:c.486G>A , LRG_203t1:c.486G>A	NP_000014.1:p.Gly162=
NM_001135697.1:c.486G>A	NP_001129169.1:p.Gly162=
XM_011525120.1:c.486G>A	XP_011523422.1:p.Gly162=
XM_011525121.1:c.486G>A	XP_011523423.1:p.Gly162=
XM_011525122.1:c.486G>A	XP_011523424.1:p.Gly162=
XM_011525123.1:c.486G>A	XP_011523425.1:p.Gly162=
XM_011525124.1:c.180G>A	XP_011523426.1:p.Gly60=
XR_934517.1:n.552G>A
NM_000023.3:c.486G>A	NP_000014.1:p.Gly162=
NM_001135697.2:c.486G>A	NP_001129169.1:p.Gly162=
NR_135553.1:n.542G>A
XM_011525120.2:c.648G>A	XP_011523422.2:p.Gly216=
XM_011525121.2:c.648G>A	XP_011523423.2:p.Gly216=
XM_011525122.2:c.648G>A	XP_011523424.2:p.Gly216=
XM_011525123.2:c.648G>A	XP_011523425.2:p.Gly216=
XM_011525124.2:c.180G>A	XP_011523426.1:p.Gly60=
XM_024450873.1:c.180G>A	XP_024306641.1:p.Gly60=
XR_002958056.1:n.1004G>A
NM_000023.4:c.486G>A MANE Select	NP_000014.1:p.Gly162=
NM_001135697.3:c.486G>A	NP_001129169.1:p.Gly162=
NR_135553.2:n.522G>A