Canonical Allele Identifier: CA400180132

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168558-G-T
• MyVariant Identifiers: chr17:g.48245919G>T (hg19) ; chr17:g.50168558G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.570G>T	ENSP00000422030.2:p.Glu190Asp
ENST00000511303.6:n.295G>T
ENST00000512526.2:c.561G>T	ENSP00000426606.2:n.561G>T
ENST00000682109.1:c.450G>T	ENSP00000508041.1:p.Glu150Asp
ENST00000683226.1:n.280G>T
ENST00000683294.1:c.570G>T	ENSP00000508134.1:p.Glu190Asp
ENST00000262018.8:c.570G>T MANE Select	ENSP00000262018.3:p.Glu190Asp
ENST00000262018.7:c.570G>T	ENSP00000262018.3:p.Glu190Asp
ENST00000344627.10:c.570G>T	ENSP00000345522.6:p.Glu190Asp
ENST00000502555.5:c.*229G>T	ENSP00000422817.1:n.*229G>T
ENST00000504073.1:c.37G>T
ENST00000511303.5:c.291G>T	ENSP00000426104.1:p.Glu97Asp
ENST00000512526.1:c.405G>T
ENST00000513821.5:c.570G>T	ENSP00000426571.1:p.Glu190Asp
ENST00000513942.5:n.361G>T
ENST00000514934.1:c.*276G>T	ENSP00000423168.1:n.*276G>T
NM_000023.2:c.570G>T , LRG_203t1:c.570G>T	NP_000014.1:p.Glu190Asp
NM_001135697.1:c.570G>T	NP_001129169.1:p.Glu190Asp
XM_011525120.1:c.570G>T	XP_011523422.1:p.Glu190Asp
XM_011525121.1:c.570G>T	XP_011523423.1:p.Glu190Asp
XM_011525122.1:c.570G>T	XP_011523424.1:p.Glu190Asp
XM_011525123.1:c.570G>T	XP_011523425.1:p.Glu190Asp
XM_011525124.1:c.264G>T	XP_011523426.1:p.Glu88Asp
XR_934517.1:n.636G>T
NM_000023.3:c.570G>T	NP_000014.1:p.Glu190Asp
NM_001135697.2:c.570G>T	NP_001129169.1:p.Glu190Asp
NR_135553.1:n.626G>T
XM_011525120.2:c.732G>T	XP_011523422.2:p.Glu244Asp
XM_011525121.2:c.732G>T	XP_011523423.2:p.Glu244Asp
XM_011525122.2:c.732G>T	XP_011523424.2:p.Glu244Asp
XM_011525123.2:c.732G>T	XP_011523425.2:p.Glu244Asp
XM_011525124.2:c.264G>T	XP_011523426.1:p.Glu88Asp
XM_024450873.1:c.264G>T	XP_024306641.1:p.Glu88Asp
XR_002958056.1:n.1088G>T
NM_000023.4:c.570G>T MANE Select	NP_000014.1:p.Glu190Asp
NM_001135697.3:c.570G>T	NP_001129169.1:p.Glu190Asp
NR_135553.2:n.606G>T