Canonical Allele Identifier: CA400181284

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247513T>A (hg19) ; chr17:g.50170152T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170152T>A , CM000679.2:g.50170152T>A	GRCh38
NC_000017.10:g.48247513T>A , CM000679.1:g.48247513T>A	GRCh37
NC_000017.9:g.45602512T>A	NCBI36
NG_008889.1:g.9148T>A , LRG_203:g.9148T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.607T>A	ENSP00000422030.2:p.Ser203Thr
ENST00000511303.6:n.310-488T>A
ENST00000512526.2:c.576-488T>A	ENSP00000426606.2:n.576-488T>A
ENST00000682109.1:c.637T>A	ENSP00000508041.1:p.Ser213Thr
ENST00000683226.1:n.1355T>A
ENST00000683294.1:c.*23T>A	ENSP00000508134.1:n.*23T>A
ENST00000683544.1:n.123T>A
ENST00000262018.8:c.757T>A MANE Select	ENSP00000262018.3:p.Ser253Thr
ENST00000262018.7:c.757T>A	ENSP00000262018.3:p.Ser253Thr
ENST00000344627.10:c.585-488T>A	ENSP00000345522.6:n.585-488T>A
ENST00000504073.1:c.74T>A
ENST00000511303.5:c.306-488T>A	ENSP00000426104.1:n.306-488T>A
ENST00000512526.1:c.420-488T>A
ENST00000513821.5:c.748-488T>A	ENSP00000426571.1:n.748-488T>A
ENST00000513942.5:n.376-488T>A
NM_000023.2:c.757T>A , LRG_203t1:c.757T>A	NP_000014.1:p.Ser253Thr
NM_001135697.1:c.585-488T>A	NP_001129169.1:n.585-488T>A
XM_011525120.1:c.757T>A	XP_011523422.1:p.Ser253Thr
XM_011525121.1:c.607T>A	XP_011523423.1:p.Ser203Thr
XM_011525122.1:c.748-488T>A	XP_011523424.1:n.748-488T>A
XM_011525123.1:c.585-488T>A	XP_011523425.1:n.585-488T>A
XM_011525124.1:c.451T>A	XP_011523426.1:p.Ser151Thr
XR_934517.1:n.814-488T>A
NM_000023.3:c.757T>A	NP_000014.1:p.Ser253Thr
NM_001135697.2:c.585-488T>A	NP_001129169.1:n.585-488T>A
NR_135553.1:n.804-488T>A
XM_011525120.2:c.919T>A	XP_011523422.2:p.Ser307Thr
XM_011525121.2:c.769T>A	XP_011523423.2:p.Ser257Thr
XM_011525122.2:c.910-488T>A	XP_011523424.2:n.910-488T>A
XM_011525123.2:c.747-488T>A	XP_011523425.2:n.747-488T>A
XM_011525124.2:c.451T>A	XP_011523426.1:p.Ser151Thr
XM_024450873.1:c.451T>A	XP_024306641.1:p.Ser151Thr
XR_002958056.1:n.1354T>A
NM_000023.4:c.757T>A MANE Select	NP_000014.1:p.Ser253Thr
NM_001135697.3:c.585-488T>A	NP_001129169.1:n.585-488T>A
NR_135553.2:n.784-488T>A