Canonical Allele Identifier: CA400181308

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247519C>G (hg19) ; chr17:g.50170158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170158C>G , CM000679.2:g.50170158C>G	GRCh38
NC_000017.10:g.48247519C>G , CM000679.1:g.48247519C>G	GRCh37
NC_000017.9:g.45602518C>G	NCBI36
NG_008889.1:g.9154C>G , LRG_203:g.9154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.613C>G	ENSP00000422030.2:p.Pro205Ala
ENST00000511303.6:n.310-482C>G
ENST00000512526.2:c.576-482C>G	ENSP00000426606.2:n.576-482C>G
ENST00000682109.1:c.643C>G	ENSP00000508041.1:p.Pro215Ala
ENST00000683226.1:n.1361C>G
ENST00000683294.1:c.*29C>G	ENSP00000508134.1:n.*29C>G
ENST00000683544.1:n.129C>G
ENST00000262018.8:c.763C>G MANE Select	ENSP00000262018.3:p.Pro255Ala
ENST00000262018.7:c.763C>G	ENSP00000262018.3:p.Pro255Ala
ENST00000344627.10:c.585-482C>G	ENSP00000345522.6:n.585-482C>G
ENST00000504073.1:c.80C>G
ENST00000511303.5:c.306-482C>G	ENSP00000426104.1:n.306-482C>G
ENST00000512526.1:c.420-482C>G
ENST00000513821.5:c.748-482C>G	ENSP00000426571.1:n.748-482C>G
ENST00000513942.5:n.376-482C>G
NM_000023.2:c.763C>G , LRG_203t1:c.763C>G	NP_000014.1:p.Pro255Ala
NM_001135697.1:c.585-482C>G	NP_001129169.1:n.585-482C>G
XM_011525120.1:c.763C>G	XP_011523422.1:p.Pro255Ala
XM_011525121.1:c.613C>G	XP_011523423.1:p.Pro205Ala
XM_011525122.1:c.748-482C>G	XP_011523424.1:n.748-482C>G
XM_011525123.1:c.585-482C>G	XP_011523425.1:n.585-482C>G
XM_011525124.1:c.457C>G	XP_011523426.1:p.Pro153Ala
XR_934517.1:n.814-482C>G
NM_000023.3:c.763C>G	NP_000014.1:p.Pro255Ala
NM_001135697.2:c.585-482C>G	NP_001129169.1:n.585-482C>G
NR_135553.1:n.804-482C>G
XM_011525120.2:c.925C>G	XP_011523422.2:p.Pro309Ala
XM_011525121.2:c.775C>G	XP_011523423.2:p.Pro259Ala
XM_011525122.2:c.910-482C>G	XP_011523424.2:n.910-482C>G
XM_011525123.2:c.747-482C>G	XP_011523425.2:n.747-482C>G
XM_011525124.2:c.457C>G	XP_011523426.1:p.Pro153Ala
XM_024450873.1:c.457C>G	XP_024306641.1:p.Pro153Ala
XR_002958056.1:n.1360C>G
NM_000023.4:c.763C>G MANE Select	NP_000014.1:p.Pro255Ala
NM_001135697.3:c.585-482C>G	NP_001129169.1:n.585-482C>G
NR_135553.2:n.784-482C>G