Canonical Allele Identifier: CA500829686

Gene: SGCA

Linked Data

• ClinVar Variation Id: 512160
• ClinVar RCV Id: RCV000614050 ; RCV000733792
• dbSNP Id: rs1555569293
• gnomAD v4: 17-50170256-G-A
• MyVariant Identifiers: chr17:g.48247617G>A (hg19) ; chr17:g.50170256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170256G>A , CM000679.2:g.50170256G>A	GRCh38
NC_000017.10:g.48247617G>A , CM000679.1:g.48247617G>A	GRCh37
NC_000017.9:g.45602616G>A	NCBI36
NG_008889.1:g.9252G>A , LRG_203:g.9252G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.711G>A	ENSP00000422030.2:p.Leu237=
ENST00000511303.6:n.310-384G>A
ENST00000512526.2:c.576-384G>A	ENSP00000426606.2:n.576-384G>A
ENST00000682109.1:c.741G>A	ENSP00000508041.1:p.Leu247=
ENST00000683226.1:n.1459G>A
ENST00000683294.1:c.*59+68G>A	ENSP00000508134.1:n.*59+68G>A
ENST00000683544.1:n.227G>A
ENST00000262018.8:c.861G>A MANE Select	ENSP00000262018.3:p.Leu287=
ENST00000262018.7:c.861G>A	ENSP00000262018.3:p.Leu287=
ENST00000344627.10:c.585-384G>A	ENSP00000345522.6:n.585-384G>A
ENST00000504073.1:c.178G>A
ENST00000511303.5:c.306-384G>A	ENSP00000426104.1:n.306-384G>A
ENST00000512526.1:c.420-384G>A
ENST00000513821.5:c.748-384G>A	ENSP00000426571.1:n.748-384G>A
ENST00000513942.5:n.376-384G>A
NM_000023.2:c.861G>A , LRG_203t1:c.861G>A	NP_000014.1:p.Leu287=
NM_001135697.1:c.585-384G>A	NP_001129169.1:n.585-384G>A
XM_011525120.1:c.861G>A	XP_011523422.1:p.Leu287=
XM_011525121.1:c.711G>A	XP_011523423.1:p.Leu237=
XM_011525122.1:c.748-384G>A	XP_011523424.1:n.748-384G>A
XM_011525123.1:c.585-384G>A	XP_011523425.1:n.585-384G>A
XM_011525124.1:c.555G>A	XP_011523426.1:p.Leu185=
XR_934517.1:n.814-384G>A
NM_000023.3:c.861G>A	NP_000014.1:p.Leu287=
NM_001135697.2:c.585-384G>A	NP_001129169.1:n.585-384G>A
NR_135553.1:n.804-384G>A
XM_011525120.2:c.1023G>A	XP_011523422.2:p.Leu341=
XM_011525121.2:c.873G>A	XP_011523423.2:p.Leu291=
XM_011525122.2:c.910-384G>A	XP_011523424.2:n.910-384G>A
XM_011525123.2:c.747-384G>A	XP_011523425.2:n.747-384G>A
XM_011525124.2:c.555G>A	XP_011523426.1:p.Leu185=
XM_024450873.1:c.555G>A	XP_024306641.1:p.Leu185=
XR_002958056.1:n.1458G>A
NM_000023.4:c.861G>A MANE Select	NP_000014.1:p.Leu287=
NM_001135697.3:c.585-384G>A	NP_001129169.1:n.585-384G>A
NR_135553.2:n.784-384G>A