Canonical Allele Identifier: CA400178439

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245329A>C (hg19) ; chr17:g.50167968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167968A>C , CM000679.2:g.50167968A>C	GRCh38
NC_000017.10:g.48245329A>C , CM000679.1:g.48245329A>C	GRCh37
NC_000017.9:g.45600328A>C	NCBI36
NG_008889.1:g.6964A>C , LRG_203:g.6964A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.334A>C	ENSP00000422030.2:p.Ser112Arg
ENST00000511303.6:n.59A>C
ENST00000512526.2:c.325A>C	ENSP00000426606.2:p.Ser109Arg
ENST00000682109.1:c.214A>C	ENSP00000508041.1:p.Ser72Arg
ENST00000683226.1:n.44A>C
ENST00000683294.1:c.334A>C	ENSP00000508134.1:p.Ser112Arg
ENST00000262018.8:c.334A>C MANE Select	ENSP00000262018.3:p.Ser112Arg
ENST00000262018.7:c.334A>C	ENSP00000262018.3:p.Ser112Arg
ENST00000344627.10:c.334A>C	ENSP00000345522.6:p.Ser112Arg
ENST00000502555.5:c.179A>C	ENSP00000422817.1:p.Gln60Pro
ENST00000511303.5:c.55A>C	ENSP00000426104.1:p.Ser19Arg
ENST00000512526.1:c.169A>C
ENST00000513821.5:c.334A>C	ENSP00000426571.1:p.Ser112Arg
ENST00000513942.5:n.125A>C
ENST00000514934.1:c.*40A>C	ENSP00000423168.1:n.*40A>C
NM_000023.2:c.334A>C , LRG_203t1:c.334A>C	NP_000014.1:p.Ser112Arg
NM_001135697.1:c.334A>C	NP_001129169.1:p.Ser112Arg
XM_011525120.1:c.334A>C	XP_011523422.1:p.Ser112Arg
XM_011525121.1:c.334A>C	XP_011523423.1:p.Ser112Arg
XM_011525122.1:c.334A>C	XP_011523424.1:p.Ser112Arg
XM_011525123.1:c.334A>C	XP_011523425.1:p.Ser112Arg
XM_011525124.1:c.28A>C	XP_011523426.1:p.Ser10Arg
XR_934517.1:n.400A>C
NM_000023.3:c.334A>C	NP_000014.1:p.Ser112Arg
NM_001135697.2:c.334A>C	NP_001129169.1:p.Ser112Arg
NR_135553.1:n.390A>C
XM_011525120.2:c.496A>C	XP_011523422.2:p.Ser166Arg
XM_011525121.2:c.496A>C	XP_011523423.2:p.Ser166Arg
XM_011525122.2:c.496A>C	XP_011523424.2:p.Ser166Arg
XM_011525123.2:c.496A>C	XP_011523425.2:p.Ser166Arg
XM_011525124.2:c.28A>C	XP_011523426.1:p.Ser10Arg
XM_024450873.1:c.28A>C	XP_024306641.1:p.Ser10Arg
XR_002958056.1:n.852A>C
NM_000023.4:c.334A>C MANE Select	NP_000014.1:p.Ser112Arg
NM_001135697.3:c.334A>C	NP_001129169.1:p.Ser112Arg
NR_135553.2:n.370A>C