Canonical Allele Identifier: CA772786481

Gene: SGCA

Linked Data

• dbSNP Id: rs1383452944
• gnomAD v3: 17-50170071-C-T
• gnomAD v4: 17-50170071-C-T
• MyVariant Identifiers: chr17:g.48247432C>T (hg19) ; chr17:g.50170071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170071C>T , CM000679.2:g.50170071C>T	GRCh38
NC_000017.10:g.48247432C>T , CM000679.1:g.48247432C>T	GRCh37
NC_000017.9:g.45602431C>T	NCBI36
NG_008889.1:g.9067C>T , LRG_203:g.9067C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-72C>T	ENSP00000422030.2:n.598-72C>T
ENST00000511303.6:n.310-569C>T
ENST00000512526.2:c.576-569C>T	ENSP00000426606.2:n.576-569C>T
ENST00000682109.1:c.628-72C>T	ENSP00000508041.1:n.628-72C>T
ENST00000683226.1:n.1274C>T
ENST00000683294.1:c.755C>T	ENSP00000508134.1:p.Pro252Leu
ENST00000683544.1:n.42C>T
ENST00000262018.8:c.748-72C>T MANE Select	ENSP00000262018.3:n.748-72C>T
ENST00000262018.7:c.748-72C>T	ENSP00000262018.3:n.748-72C>T
ENST00000344627.10:c.585-569C>T	ENSP00000345522.6:n.585-569C>T
ENST00000504073.1:c.65-72C>T
ENST00000511303.5:c.306-569C>T	ENSP00000426104.1:n.306-569C>T
ENST00000512526.1:c.420-569C>T
ENST00000513821.5:c.748-569C>T	ENSP00000426571.1:n.748-569C>T
ENST00000513942.5:n.376-569C>T
NM_000023.2:c.748-72C>T , LRG_203t1:c.748-72C>T	NP_000014.1:n.748-72C>T
NM_001135697.1:c.585-569C>T	NP_001129169.1:n.585-569C>T
XM_011525120.1:c.748-72C>T	XP_011523422.1:n.748-72C>T
XM_011525121.1:c.598-72C>T	XP_011523423.1:n.598-72C>T
XM_011525122.1:c.748-569C>T	XP_011523424.1:n.748-569C>T
XM_011525123.1:c.585-569C>T	XP_011523425.1:n.585-569C>T
XM_011525124.1:c.442-72C>T	XP_011523426.1:n.442-72C>T
XR_934517.1:n.814-569C>T
NM_000023.3:c.748-72C>T	NP_000014.1:n.748-72C>T
NM_001135697.2:c.585-569C>T	NP_001129169.1:n.585-569C>T
NR_135553.1:n.804-569C>T
XM_011525120.2:c.910-72C>T	XP_011523422.2:n.910-72C>T
XM_011525121.2:c.760-72C>T	XP_011523423.2:n.760-72C>T
XM_011525122.2:c.910-569C>T	XP_011523424.2:n.910-569C>T
XM_011525123.2:c.747-569C>T	XP_011523425.2:n.747-569C>T
XM_011525124.2:c.442-72C>T	XP_011523426.1:n.442-72C>T
XM_024450873.1:c.442-72C>T	XP_024306641.1:n.442-72C>T
XR_002958056.1:n.1273C>T
NM_000023.4:c.748-72C>T MANE Select	NP_000014.1:n.748-72C>T
NM_001135697.3:c.585-569C>T	NP_001129169.1:n.585-569C>T
NR_135553.2:n.784-569C>T