Canonical Allele Identifier: CA400182002

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247568A>C (hg19) ; chr17:g.50170207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170207A>C , CM000679.2:g.50170207A>C	GRCh38
NC_000017.10:g.48247568A>C , CM000679.1:g.48247568A>C	GRCh37
NC_000017.9:g.45602567A>C	NCBI36
NG_008889.1:g.9203A>C , LRG_203:g.9203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.662A>C	ENSP00000422030.2:p.His221Pro
ENST00000511303.6:n.310-433A>C
ENST00000512526.2:c.576-433A>C	ENSP00000426606.2:n.576-433A>C
ENST00000682109.1:c.692A>C	ENSP00000508041.1:p.His231Pro
ENST00000683226.1:n.1410A>C
ENST00000683294.1:c.*59+19A>C	ENSP00000508134.1:n.*59+19A>C
ENST00000683544.1:n.178A>C
ENST00000262018.8:c.812A>C MANE Select	ENSP00000262018.3:p.His271Pro
ENST00000262018.7:c.812A>C	ENSP00000262018.3:p.His271Pro
ENST00000344627.10:c.585-433A>C	ENSP00000345522.6:n.585-433A>C
ENST00000504073.1:c.129A>C
ENST00000511303.5:c.306-433A>C	ENSP00000426104.1:n.306-433A>C
ENST00000512526.1:c.420-433A>C
ENST00000513821.5:c.748-433A>C	ENSP00000426571.1:n.748-433A>C
ENST00000513942.5:n.376-433A>C
NM_000023.2:c.812A>C , LRG_203t1:c.812A>C	NP_000014.1:p.His271Pro
NM_001135697.1:c.585-433A>C	NP_001129169.1:n.585-433A>C
XM_011525120.1:c.812A>C	XP_011523422.1:p.His271Pro
XM_011525121.1:c.662A>C	XP_011523423.1:p.His221Pro
XM_011525122.1:c.748-433A>C	XP_011523424.1:n.748-433A>C
XM_011525123.1:c.585-433A>C	XP_011523425.1:n.585-433A>C
XM_011525124.1:c.506A>C	XP_011523426.1:p.His169Pro
XR_934517.1:n.814-433A>C
NM_000023.3:c.812A>C	NP_000014.1:p.His271Pro
NM_001135697.2:c.585-433A>C	NP_001129169.1:n.585-433A>C
NR_135553.1:n.804-433A>C
XM_011525120.2:c.974A>C	XP_011523422.2:p.His325Pro
XM_011525121.2:c.824A>C	XP_011523423.2:p.His275Pro
XM_011525122.2:c.910-433A>C	XP_011523424.2:n.910-433A>C
XM_011525123.2:c.747-433A>C	XP_011523425.2:n.747-433A>C
XM_011525124.2:c.506A>C	XP_011523426.1:p.His169Pro
XM_024450873.1:c.506A>C	XP_024306641.1:p.His169Pro
XR_002958056.1:n.1409A>C
NM_000023.4:c.812A>C MANE Select	NP_000014.1:p.His271Pro
NM_001135697.3:c.585-433A>C	NP_001129169.1:n.585-433A>C
NR_135553.2:n.784-433A>C