Canonical Allele Identifier: CA400177449

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1967847
• ClinVar RCV Id: RCV002727063
• MyVariant Identifiers: chr17:g.48245003C>G (hg19) ; chr17:g.50167642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167642C>G , CM000679.2:g.50167642C>G	GRCh38
NC_000017.10:g.48245003C>G , CM000679.1:g.48245003C>G	GRCh37
NC_000017.9:g.45600002C>G	NCBI36
NG_008889.1:g.6638C>G , LRG_203:g.6638C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.218C>G	ENSP00000422030.2:p.Pro73Arg
ENST00000511303.6:n.38-305C>G
ENST00000512526.2:c.218C>G	ENSP00000426606.2:p.Pro73Arg
ENST00000682109.1:c.98C>G	ENSP00000508041.1:p.Pro33Arg
ENST00000683294.1:c.218C>G	ENSP00000508134.1:p.Pro73Arg
ENST00000262018.8:c.218C>G MANE Select	ENSP00000262018.3:p.Pro73Arg
ENST00000262018.7:c.218C>G	ENSP00000262018.3:p.Pro73Arg
ENST00000344627.10:c.218C>G	ENSP00000345522.6:p.Pro73Arg
ENST00000502555.5:c.157+155C>G	ENSP00000422817.1:n.157+155C>G
ENST00000511303.5:c.34-305C>G	ENSP00000426104.1:n.34-305C>G
ENST00000512526.1:c.62C>G
ENST00000513821.5:c.218C>G	ENSP00000426571.1:p.Pro73Arg
ENST00000513942.5:n.104-305C>G
ENST00000514934.1:c.*18+155C>G	ENSP00000423168.1:n.*18+155C>G
NM_000023.2:c.218C>G , LRG_203t1:c.218C>G	NP_000014.1:p.Pro73Arg
NM_001135697.1:c.218C>G	NP_001129169.1:p.Pro73Arg
XM_011525120.1:c.218C>G	XP_011523422.1:p.Pro73Arg
XM_011525121.1:c.218C>G	XP_011523423.1:p.Pro73Arg
XM_011525122.1:c.218C>G	XP_011523424.1:p.Pro73Arg
XM_011525123.1:c.218C>G	XP_011523425.1:p.Pro73Arg
XM_011525124.1:c.6+155C>G	XP_011523426.1:n.6+155C>G
XR_934517.1:n.284C>G
NM_000023.3:c.218C>G	NP_000014.1:p.Pro73Arg
NM_001135697.2:c.218C>G	NP_001129169.1:p.Pro73Arg
NR_135553.1:n.274C>G
XM_011525120.2:c.380C>G	XP_011523422.2:p.Pro127Arg
XM_011525121.2:c.380C>G	XP_011523423.2:p.Pro127Arg
XM_011525122.2:c.380C>G	XP_011523424.2:p.Pro127Arg
XM_011525123.2:c.380C>G	XP_011523425.2:p.Pro127Arg
XM_011525124.2:c.6+155C>G	XP_011523426.1:n.6+155C>G
XM_024450873.1:c.6+155C>G	XP_024306641.1:n.6+155C>G
XR_002958056.1:n.736C>G
NM_000023.4:c.218C>G MANE Select	NP_000014.1:p.Pro73Arg
NM_001135697.3:c.218C>G	NP_001129169.1:p.Pro73Arg
NR_135553.2:n.254C>G