Canonical Allele Identifier: CA500828585

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245901T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168540T>G , CM000679.2:g.50168540T>G	GRCh38
NC_000017.10:g.48245901T>G , CM000679.1:g.48245901T>G	GRCh37
NC_000017.9:g.45600900T>G	NCBI36
NG_008889.1:g.7536T>G , LRG_203:g.7536T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.552T>G	ENSP00000422030.2:p.Arg184=
ENST00000511303.6:n.277T>G
ENST00000512526.2:c.543T>G	ENSP00000426606.2:n.543T>G
ENST00000682109.1:c.432T>G	ENSP00000508041.1:p.Arg144=
ENST00000683226.1:n.262T>G
ENST00000683294.1:c.552T>G	ENSP00000508134.1:p.Arg184=
ENST00000262018.8:c.552T>G MANE Select	ENSP00000262018.3:p.Arg184=
ENST00000262018.7:c.552T>G	ENSP00000262018.3:p.Arg184=
ENST00000344627.10:c.552T>G	ENSP00000345522.6:p.Arg184=
ENST00000502555.5:c.*211T>G	ENSP00000422817.1:n.*211T>G
ENST00000504073.1:c.19T>G
ENST00000511303.5:c.273T>G	ENSP00000426104.1:p.Arg91=
ENST00000512526.1:c.387T>G
ENST00000513821.5:c.552T>G	ENSP00000426571.1:p.Arg184=
ENST00000513942.5:n.343T>G
ENST00000514934.1:c.*258T>G	ENSP00000423168.1:n.*258T>G
NM_000023.2:c.552T>G , LRG_203t1:c.552T>G	NP_000014.1:p.Arg184=
NM_001135697.1:c.552T>G	NP_001129169.1:p.Arg184=
XM_011525120.1:c.552T>G	XP_011523422.1:p.Arg184=
XM_011525121.1:c.552T>G	XP_011523423.1:p.Arg184=
XM_011525122.1:c.552T>G	XP_011523424.1:p.Arg184=
XM_011525123.1:c.552T>G	XP_011523425.1:p.Arg184=
XM_011525124.1:c.246T>G	XP_011523426.1:p.Arg82=
XR_934517.1:n.618T>G
NM_000023.3:c.552T>G	NP_000014.1:p.Arg184=
NM_001135697.2:c.552T>G	NP_001129169.1:p.Arg184=
NR_135553.1:n.608T>G
XM_011525120.2:c.714T>G	XP_011523422.2:p.Arg238=
XM_011525121.2:c.714T>G	XP_011523423.2:p.Arg238=
XM_011525122.2:c.714T>G	XP_011523424.2:p.Arg238=
XM_011525123.2:c.714T>G	XP_011523425.2:p.Arg238=
XM_011525124.2:c.246T>G	XP_011523426.1:p.Arg82=
XM_024450873.1:c.246T>G	XP_024306641.1:p.Arg82=
XR_002958056.1:n.1070T>G
NM_000023.4:c.552T>G MANE Select	NP_000014.1:p.Arg184=
NM_001135697.3:c.552T>G	NP_001129169.1:p.Arg184=
NR_135553.2:n.588T>G