Canonical Allele Identifier: CA2638707419

Gene: SGCA

Linked Data

• gnomAD v4: 17-50169943-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169943A>G , CM000679.2:g.50169943A>G	GRCh38
NC_000017.10:g.48247304A>G , CM000679.1:g.48247304A>G	GRCh37
NC_000017.9:g.45602303A>G	NCBI36
NG_008889.1:g.8939A>G , LRG_203:g.8939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.598-200A>G	ENSP00000422030.2:n.598-200A>G
ENST00000511303.6:n.310-697A>G
ENST00000512526.2:c.576-697A>G	ENSP00000426606.2:n.576-697A>G
ENST00000682109.1:c.628-200A>G	ENSP00000508041.1:n.628-200A>G
ENST00000683226.1:n.1146A>G
ENST00000683294.1:c.748-121A>G	ENSP00000508134.1:n.748-121A>G
ENST00000262018.8:c.748-200A>G MANE Select	ENSP00000262018.3:n.748-200A>G
ENST00000262018.7:c.748-200A>G	ENSP00000262018.3:n.748-200A>G
ENST00000344627.10:c.585-697A>G	ENSP00000345522.6:n.585-697A>G
ENST00000502555.5:c.*1095A>G	ENSP00000422817.1:n.*1095A>G
ENST00000504073.1:c.65-200A>G
ENST00000511303.5:c.306-697A>G	ENSP00000426104.1:n.306-697A>G
ENST00000512526.1:c.420-697A>G
ENST00000513821.5:c.747+689A>G	ENSP00000426571.1:n.747+689A>G
ENST00000513942.5:n.376-697A>G
NM_000023.2:c.748-200A>G , LRG_203t1:c.748-200A>G	NP_000014.1:n.748-200A>G
NM_001135697.1:c.585-697A>G	NP_001129169.1:n.585-697A>G
XM_011525120.1:c.748-200A>G	XP_011523422.1:n.748-200A>G
XM_011525121.1:c.598-200A>G	XP_011523423.1:n.598-200A>G
XM_011525122.1:c.747+689A>G	XP_011523424.1:n.747+689A>G
XM_011525123.1:c.585-697A>G	XP_011523425.1:n.585-697A>G
XM_011525124.1:c.442-200A>G	XP_011523426.1:n.442-200A>G
XR_934517.1:n.813+689A>G
NM_000023.3:c.748-200A>G	NP_000014.1:n.748-200A>G
NM_001135697.2:c.585-697A>G	NP_001129169.1:n.585-697A>G
NR_135553.1:n.803+689A>G
XM_011525120.2:c.910-200A>G	XP_011523422.2:n.910-200A>G
XM_011525121.2:c.760-200A>G	XP_011523423.2:n.760-200A>G
XM_011525122.2:c.909+689A>G	XP_011523424.2:n.909+689A>G
XM_011525123.2:c.747-697A>G	XP_011523425.2:n.747-697A>G
XM_011525124.2:c.442-200A>G	XP_011523426.1:n.442-200A>G
XM_024450873.1:c.442-200A>G	XP_024306641.1:n.442-200A>G
XR_002958056.1:n.1266-121A>G
NM_000023.4:c.748-200A>G MANE Select	NP_000014.1:n.748-200A>G
NM_001135697.3:c.585-697A>G	NP_001129169.1:n.585-697A>G
NR_135553.2:n.783+689A>G