Canonical Allele Identifier: CA291536552

Gene: SGCA

Linked Data

• dbSNP Id: rs556111440
• gnomAD v4: 17-50168554-T-C
• MyVariant Identifiers: chr17:g.48245915T>C (hg19) ; chr17:g.50168554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168554T>C , CM000679.2:g.50168554T>C	GRCh38
NC_000017.10:g.48245915T>C , CM000679.1:g.48245915T>C	GRCh37
NC_000017.9:g.45600914T>C	NCBI36
NG_008889.1:g.7550T>C , LRG_203:g.7550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.566T>C	ENSP00000422030.2:p.Ile189Thr
ENST00000511303.6:n.291T>C
ENST00000512526.2:c.557T>C	ENSP00000426606.2:n.557T>C
ENST00000682109.1:c.446T>C	ENSP00000508041.1:p.Ile149Thr
ENST00000683226.1:n.276T>C
ENST00000683294.1:c.566T>C	ENSP00000508134.1:p.Ile189Thr
ENST00000262018.8:c.566T>C MANE Select	ENSP00000262018.3:p.Ile189Thr
ENST00000262018.7:c.566T>C	ENSP00000262018.3:p.Ile189Thr
ENST00000344627.10:c.566T>C	ENSP00000345522.6:p.Ile189Thr
ENST00000502555.5:c.*225T>C	ENSP00000422817.1:n.*225T>C
ENST00000504073.1:c.33T>C
ENST00000511303.5:c.287T>C	ENSP00000426104.1:p.Ile96Thr
ENST00000512526.1:c.401T>C
ENST00000513821.5:c.566T>C	ENSP00000426571.1:p.Ile189Thr
ENST00000513942.5:n.357T>C
ENST00000514934.1:c.*272T>C	ENSP00000423168.1:n.*272T>C
NM_000023.2:c.566T>C , LRG_203t1:c.566T>C	NP_000014.1:p.Ile189Thr
NM_001135697.1:c.566T>C	NP_001129169.1:p.Ile189Thr
XM_011525120.1:c.566T>C	XP_011523422.1:p.Ile189Thr
XM_011525121.1:c.566T>C	XP_011523423.1:p.Ile189Thr
XM_011525122.1:c.566T>C	XP_011523424.1:p.Ile189Thr
XM_011525123.1:c.566T>C	XP_011523425.1:p.Ile189Thr
XM_011525124.1:c.260T>C	XP_011523426.1:p.Ile87Thr
XR_934517.1:n.632T>C
NM_000023.3:c.566T>C	NP_000014.1:p.Ile189Thr
NM_001135697.2:c.566T>C	NP_001129169.1:p.Ile189Thr
NR_135553.1:n.622T>C
XM_011525120.2:c.728T>C	XP_011523422.2:p.Ile243Thr
XM_011525121.2:c.728T>C	XP_011523423.2:p.Ile243Thr
XM_011525122.2:c.728T>C	XP_011523424.2:p.Ile243Thr
XM_011525123.2:c.728T>C	XP_011523425.2:p.Ile243Thr
XM_011525124.2:c.260T>C	XP_011523426.1:p.Ile87Thr
XM_024450873.1:c.260T>C	XP_024306641.1:p.Ile87Thr
XR_002958056.1:n.1084T>C
NM_000023.4:c.566T>C MANE Select	NP_000014.1:p.Ile189Thr
NM_001135697.3:c.566T>C	NP_001129169.1:p.Ile189Thr
NR_135553.2:n.602T>C