Canonical Allele Identifier: CA400176636

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1498501
• ClinVar RCV Id: RCV002019675
• dbSNP Id: rs758647756
• MyVariant Identifiers: chr17:g.48244791C>A (hg19) ; chr17:g.50167430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167430C>A , CM000679.2:g.50167430C>A	GRCh38
NC_000017.10:g.48244791C>A , CM000679.1:g.48244791C>A	GRCh37
NC_000017.9:g.45599790C>A	NCBI36
NG_008889.1:g.6426C>A , LRG_203:g.6426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.100C>A	ENSP00000422030.2:p.Arg34Ser
ENST00000511303.6:n.38-517C>A
ENST00000512526.2:c.100C>A	ENSP00000426606.2:p.Arg34Ser
ENST00000682109.1:c.38-152C>A	ENSP00000508041.1:n.38-152C>A
ENST00000683294.1:c.100C>A	ENSP00000508134.1:p.Arg34Ser
ENST00000262018.8:c.100C>A MANE Select	ENSP00000262018.3:p.Arg34Ser
ENST00000262018.7:c.100C>A	ENSP00000262018.3:p.Arg34Ser
ENST00000344627.10:c.100C>A	ENSP00000345522.6:p.Arg34Ser
ENST00000502555.5:c.100C>A	ENSP00000422817.1:p.Arg34Ser
ENST00000511303.5:c.34-517C>A	ENSP00000426104.1:n.34-517C>A
ENST00000513821.5:c.100C>A	ENSP00000426571.1:p.Arg34Ser
ENST00000513942.5:n.104-517C>A
ENST00000514934.1:c.159C>A	ENSP00000423168.1:p.Ala53=
NM_000023.2:c.100C>A , LRG_203t1:c.100C>A	NP_000014.1:p.Arg34Ser
NM_001135697.1:c.100C>A	NP_001129169.1:p.Arg34Ser
XM_011525120.1:c.100C>A	XP_011523422.1:p.Arg34Ser
XM_011525121.1:c.100C>A	XP_011523423.1:p.Arg34Ser
XM_011525122.1:c.100C>A	XP_011523424.1:p.Arg34Ser
XM_011525123.1:c.100C>A	XP_011523425.1:p.Arg34Ser
XM_011525124.1:c.-52C>A	XP_011523426.1:n.-52C>A
XR_934517.1:n.166C>A
NM_000023.3:c.100C>A	NP_000014.1:p.Arg34Ser
NM_001135697.2:c.100C>A	NP_001129169.1:p.Arg34Ser
NR_135553.1:n.156C>A
XM_011525120.2:c.262C>A	XP_011523422.2:p.Arg88Ser
XM_011525121.2:c.262C>A	XP_011523423.2:p.Arg88Ser
XM_011525122.2:c.262C>A	XP_011523424.2:p.Arg88Ser
XM_011525123.2:c.262C>A	XP_011523425.2:p.Arg88Ser
XM_011525124.2:c.-52C>A	XP_011523426.1:n.-52C>A
XM_024450873.1:c.-52C>A	XP_024306641.1:n.-52C>A
XR_002958056.1:n.618C>A
NM_000023.4:c.100C>A MANE Select	NP_000014.1:p.Arg34Ser
NM_001135697.3:c.100C>A	NP_001129169.1:p.Arg34Ser
NR_135553.2:n.136C>A