Canonical Allele Identifier: CA500828633

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168558-G-A
• MyVariant Identifiers: chr17:g.48245919G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168558G>A , CM000679.2:g.50168558G>A	GRCh38
NC_000017.10:g.48245919G>A , CM000679.1:g.48245919G>A	GRCh37
NC_000017.9:g.45600918G>A	NCBI36
NG_008889.1:g.7554G>A , LRG_203:g.7554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.570G>A	ENSP00000422030.2:p.Glu190=
ENST00000511303.6:n.295G>A
ENST00000512526.2:c.561G>A	ENSP00000426606.2:n.561G>A
ENST00000682109.1:c.450G>A	ENSP00000508041.1:p.Glu150=
ENST00000683226.1:n.280G>A
ENST00000683294.1:c.570G>A	ENSP00000508134.1:p.Glu190=
ENST00000262018.8:c.570G>A MANE Select	ENSP00000262018.3:p.Glu190=
ENST00000262018.7:c.570G>A	ENSP00000262018.3:p.Glu190=
ENST00000344627.10:c.570G>A	ENSP00000345522.6:p.Glu190=
ENST00000502555.5:c.*229G>A	ENSP00000422817.1:n.*229G>A
ENST00000504073.1:c.37G>A
ENST00000511303.5:c.291G>A	ENSP00000426104.1:p.Glu97=
ENST00000512526.1:c.405G>A
ENST00000513821.5:c.570G>A	ENSP00000426571.1:p.Glu190=
ENST00000513942.5:n.361G>A
ENST00000514934.1:c.*276G>A	ENSP00000423168.1:n.*276G>A
NM_000023.2:c.570G>A , LRG_203t1:c.570G>A	NP_000014.1:p.Glu190=
NM_001135697.1:c.570G>A	NP_001129169.1:p.Glu190=
XM_011525120.1:c.570G>A	XP_011523422.1:p.Glu190=
XM_011525121.1:c.570G>A	XP_011523423.1:p.Glu190=
XM_011525122.1:c.570G>A	XP_011523424.1:p.Glu190=
XM_011525123.1:c.570G>A	XP_011523425.1:p.Glu190=
XM_011525124.1:c.264G>A	XP_011523426.1:p.Glu88=
XR_934517.1:n.636G>A
NM_000023.3:c.570G>A	NP_000014.1:p.Glu190=
NM_001135697.2:c.570G>A	NP_001129169.1:p.Glu190=
NR_135553.1:n.626G>A
XM_011525120.2:c.732G>A	XP_011523422.2:p.Glu244=
XM_011525121.2:c.732G>A	XP_011523423.2:p.Glu244=
XM_011525122.2:c.732G>A	XP_011523424.2:p.Glu244=
XM_011525123.2:c.732G>A	XP_011523425.2:p.Glu244=
XM_011525124.2:c.264G>A	XP_011523426.1:p.Glu88=
XM_024450873.1:c.264G>A	XP_024306641.1:p.Glu88=
XR_002958056.1:n.1088G>A
NM_000023.4:c.570G>A MANE Select	NP_000014.1:p.Glu190=
NM_001135697.3:c.570G>A	NP_001129169.1:p.Glu190=
NR_135553.2:n.606G>A