Canonical Allele Identifier: CA291568979

Gene: SGCA

Linked Data

• ClinVar Variation Id: 501790
• ClinVar RCV Id: RCV000597231 ; RCV003471962
• dbSNP Id: rs112500642
• gnomAD v4: 17-50166079-C-G
• MyVariant Identifiers: chr17:g.48243440C>G (hg19) ; chr17:g.50166079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50166079C>G , CM000679.2:g.50166079C>G	GRCh38
NC_000017.10:g.48243440C>G , CM000679.1:g.48243440C>G	GRCh37
NC_000017.9:g.45598439C>G	NCBI36
NG_008889.1:g.5075C>G , LRG_203:g.5075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.37+2C>G	ENSP00000422030.2:n.37+2C>G
ENST00000511303.6:n.37+2C>G
ENST00000512526.2:c.37+2C>G	ENSP00000426606.2:n.37+2C>G
ENST00000682109.1:c.37+2C>G	ENSP00000508041.1:n.37+2C>G
ENST00000683294.1:c.37+2C>G	ENSP00000508134.1:n.37+2C>G
ENST00000262018.8:c.37+2C>G MANE Select	ENSP00000262018.3:n.37+2C>G
ENST00000262018.7:c.37+2C>G	ENSP00000262018.3:n.37+2C>G
ENST00000344627.10:c.37+2C>G	ENSP00000345522.6:n.37+2C>G
ENST00000502555.5:c.37+2C>G	ENSP00000422817.1:n.37+2C>G
ENST00000511303.5:c.33+2C>G	ENSP00000426104.1:n.33+2C>G
ENST00000513821.5:c.37+2C>G	ENSP00000426571.1:n.37+2C>G
ENST00000513942.5:n.103+1763C>G
ENST00000514934.1:c.39C>G	ENSP00000423168.1:p.Gly13=
NM_000023.2:c.37+2C>G , LRG_203t1:c.37+2C>G	NP_000014.1:n.37+2C>G
NM_001135697.1:c.37+2C>G	NP_001129169.1:n.37+2C>G
XM_011525120.1:c.37+2C>G	XP_011523422.1:n.37+2C>G
XM_011525121.1:c.37+2C>G	XP_011523423.1:n.37+2C>G
XM_011525122.1:c.37+2C>G	XP_011523424.1:n.37+2C>G
XM_011525123.1:c.37+2C>G	XP_011523425.1:n.37+2C>G
XM_011525124.1:c.-115+2C>G	XP_011523426.1:n.-115+2C>G
XR_934517.1:n.103+2C>G
XR_934832.1:n.25G>C
XR_934833.1:n.25G>C
XR_934834.1:n.25G>C
XR_934835.1:n.25G>C
NM_000023.3:c.37+2C>G	NP_000014.1:n.37+2C>G
NM_001135697.2:c.37+2C>G	NP_001129169.1:n.37+2C>G
NR_135553.1:n.93+2C>G
XM_011525120.2:c.199+2C>G	XP_011523422.2:n.199+2C>G
XM_011525121.2:c.199+2C>G	XP_011523423.2:n.199+2C>G
XM_011525122.2:c.199+2C>G	XP_011523424.2:n.199+2C>G
XM_011525123.2:c.199+2C>G	XP_011523425.2:n.199+2C>G
XM_011525124.2:c.-115+2C>G	XP_011523426.1:n.-115+2C>G
XM_024450873.1:c.-115+2C>G	XP_024306641.1:n.-115+2C>G
XR_001752932.1:n.644G>C
XR_002958056.1:n.555+2C>G
XR_934832.2:n.644G>C
XR_934833.2:n.644G>C
XR_934835.2:n.644G>C
NM_000023.4:c.37+2C>G MANE Select	NP_000014.1:n.37+2C>G
NM_001135697.3:c.37+2C>G	NP_001129169.1:n.37+2C>G
NR_135553.2:n.73+2C>G