Canonical Allele Identifier: CA500829354

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247509T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170148T>C , CM000679.2:g.50170148T>C	GRCh38
NC_000017.10:g.48247509T>C , CM000679.1:g.48247509T>C	GRCh37
NC_000017.9:g.45602508T>C	NCBI36
NG_008889.1:g.9144T>C , LRG_203:g.9144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.603T>C	ENSP00000422030.2:p.Asp201=
ENST00000511303.6:n.310-492T>C
ENST00000512526.2:c.576-492T>C	ENSP00000426606.2:n.576-492T>C
ENST00000682109.1:c.633T>C	ENSP00000508041.1:p.Asp211=
ENST00000683226.1:n.1351T>C
ENST00000683294.1:c.*19T>C	ENSP00000508134.1:n.*19T>C
ENST00000683544.1:n.119T>C
ENST00000262018.8:c.753T>C MANE Select	ENSP00000262018.3:p.Asp251=
ENST00000262018.7:c.753T>C	ENSP00000262018.3:p.Asp251=
ENST00000344627.10:c.585-492T>C	ENSP00000345522.6:n.585-492T>C
ENST00000504073.1:c.70T>C
ENST00000511303.5:c.306-492T>C	ENSP00000426104.1:n.306-492T>C
ENST00000512526.1:c.420-492T>C
ENST00000513821.5:c.748-492T>C	ENSP00000426571.1:n.748-492T>C
ENST00000513942.5:n.376-492T>C
NM_000023.2:c.753T>C , LRG_203t1:c.753T>C	NP_000014.1:p.Asp251=
NM_001135697.1:c.585-492T>C	NP_001129169.1:n.585-492T>C
XM_011525120.1:c.753T>C	XP_011523422.1:p.Asp251=
XM_011525121.1:c.603T>C	XP_011523423.1:p.Asp201=
XM_011525122.1:c.748-492T>C	XP_011523424.1:n.748-492T>C
XM_011525123.1:c.585-492T>C	XP_011523425.1:n.585-492T>C
XM_011525124.1:c.447T>C	XP_011523426.1:p.Asp149=
XR_934517.1:n.814-492T>C
NM_000023.3:c.753T>C	NP_000014.1:p.Asp251=
NM_001135697.2:c.585-492T>C	NP_001129169.1:n.585-492T>C
NR_135553.1:n.804-492T>C
XM_011525120.2:c.915T>C	XP_011523422.2:p.Asp305=
XM_011525121.2:c.765T>C	XP_011523423.2:p.Asp255=
XM_011525122.2:c.910-492T>C	XP_011523424.2:n.910-492T>C
XM_011525123.2:c.747-492T>C	XP_011523425.2:n.747-492T>C
XM_011525124.2:c.447T>C	XP_011523426.1:p.Asp149=
XM_024450873.1:c.447T>C	XP_024306641.1:p.Asp149=
XR_002958056.1:n.1350T>C
NM_000023.4:c.753T>C MANE Select	NP_000014.1:p.Asp251=
NM_001135697.3:c.585-492T>C	NP_001129169.1:n.585-492T>C
NR_135553.2:n.784-492T>C