Canonical Allele Identifier: CA400177527

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245015G>C (hg19) ; chr17:g.50167654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167654G>C , CM000679.2:g.50167654G>C	GRCh38
NC_000017.10:g.48245015G>C , CM000679.1:g.48245015G>C	GRCh37
NC_000017.9:g.45600014G>C	NCBI36
NG_008889.1:g.6650G>C , LRG_203:g.6650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.230G>C	ENSP00000422030.2:p.Arg77Pro
ENST00000511303.6:n.38-293G>C
ENST00000512526.2:c.230G>C	ENSP00000426606.2:p.Arg77Pro
ENST00000682109.1:c.110G>C	ENSP00000508041.1:p.Arg37Pro
ENST00000683294.1:c.230G>C	ENSP00000508134.1:p.Arg77Pro
ENST00000262018.8:c.230G>C MANE Select	ENSP00000262018.3:p.Arg77Pro
ENST00000262018.7:c.230G>C	ENSP00000262018.3:p.Arg77Pro
ENST00000344627.10:c.230G>C	ENSP00000345522.6:p.Arg77Pro
ENST00000502555.5:c.157+167G>C	ENSP00000422817.1:n.157+167G>C
ENST00000511303.5:c.34-293G>C	ENSP00000426104.1:n.34-293G>C
ENST00000512526.1:c.74G>C
ENST00000513821.5:c.230G>C	ENSP00000426571.1:p.Arg77Pro
ENST00000513942.5:n.104-293G>C
ENST00000514934.1:c.*18+167G>C	ENSP00000423168.1:n.*18+167G>C
NM_000023.2:c.230G>C , LRG_203t1:c.230G>C	NP_000014.1:p.Arg77Pro
NM_001135697.1:c.230G>C	NP_001129169.1:p.Arg77Pro
XM_011525120.1:c.230G>C	XP_011523422.1:p.Arg77Pro
XM_011525121.1:c.230G>C	XP_011523423.1:p.Arg77Pro
XM_011525122.1:c.230G>C	XP_011523424.1:p.Arg77Pro
XM_011525123.1:c.230G>C	XP_011523425.1:p.Arg77Pro
XM_011525124.1:c.6+167G>C	XP_011523426.1:n.6+167G>C
XR_934517.1:n.296G>C
NM_000023.3:c.230G>C	NP_000014.1:p.Arg77Pro
NM_001135697.2:c.230G>C	NP_001129169.1:p.Arg77Pro
NR_135553.1:n.286G>C
XM_011525120.2:c.392G>C	XP_011523422.2:p.Arg131Pro
XM_011525121.2:c.392G>C	XP_011523423.2:p.Arg131Pro
XM_011525122.2:c.392G>C	XP_011523424.2:p.Arg131Pro
XM_011525123.2:c.392G>C	XP_011523425.2:p.Arg131Pro
XM_011525124.2:c.6+167G>C	XP_011523426.1:n.6+167G>C
XM_024450873.1:c.6+167G>C	XP_024306641.1:n.6+167G>C
XR_002958056.1:n.748G>C
NM_000023.4:c.230G>C MANE Select	NP_000014.1:p.Arg77Pro
NM_001135697.3:c.230G>C	NP_001129169.1:p.Arg77Pro
NR_135553.2:n.266G>C