Canonical Allele Identifier: CA291536257

Gene: SGCA

Linked Data

• ClinVar Variation Id: 2969559
• ClinVar RCV Id: RCV003821693
• dbSNP Id: rs926651548
• gnomAD v2: 17-48245310-C-G
• gnomAD v3: 17-50167949-C-G
• gnomAD v4: 17-50167949-C-G
• MyVariant Identifiers: chr17:g.48245310C>G (hg19) ; chr17:g.50167949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167949C>G , CM000679.2:g.50167949C>G	GRCh38
NC_000017.10:g.48245310C>G , CM000679.1:g.48245310C>G	GRCh37
NC_000017.9:g.45600309C>G	NCBI36
NG_008889.1:g.6945C>G , LRG_203:g.6945C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.315C>G	ENSP00000422030.2:p.Val105=
ENST00000511303.6:n.40C>G
ENST00000512526.2:c.306C>G	ENSP00000426606.2:p.Val102=
ENST00000682109.1:c.195C>G	ENSP00000508041.1:p.Val65=
ENST00000683226.1:n.25C>G
ENST00000683294.1:c.315C>G	ENSP00000508134.1:p.Val105=
ENST00000262018.8:c.315C>G MANE Select	ENSP00000262018.3:p.Val105=
ENST00000262018.7:c.315C>G	ENSP00000262018.3:p.Val105=
ENST00000344627.10:c.315C>G	ENSP00000345522.6:p.Val105=
ENST00000502555.5:c.160C>G	ENSP00000422817.1:p.His54Asp
ENST00000511303.5:c.36C>G	ENSP00000426104.1:p.Val12=
ENST00000512526.1:c.150C>G
ENST00000513821.5:c.315C>G	ENSP00000426571.1:p.Val105=
ENST00000513942.5:n.106C>G
ENST00000514934.1:c.*21C>G	ENSP00000423168.1:n.*21C>G
NM_000023.2:c.315C>G , LRG_203t1:c.315C>G	NP_000014.1:p.Val105=
NM_001135697.1:c.315C>G	NP_001129169.1:p.Val105=
XM_011525120.1:c.315C>G	XP_011523422.1:p.Val105=
XM_011525121.1:c.315C>G	XP_011523423.1:p.Val105=
XM_011525122.1:c.315C>G	XP_011523424.1:p.Val105=
XM_011525123.1:c.315C>G	XP_011523425.1:p.Val105=
XM_011525124.1:c.9C>G	XP_011523426.1:p.Val3=
XR_934517.1:n.381C>G
NM_000023.3:c.315C>G	NP_000014.1:p.Val105=
NM_001135697.2:c.315C>G	NP_001129169.1:p.Val105=
NR_135553.1:n.371C>G
XM_011525120.2:c.477C>G	XP_011523422.2:p.Val159=
XM_011525121.2:c.477C>G	XP_011523423.2:p.Val159=
XM_011525122.2:c.477C>G	XP_011523424.2:p.Val159=
XM_011525123.2:c.477C>G	XP_011523425.2:p.Val159=
XM_011525124.2:c.9C>G	XP_011523426.1:p.Val3=
XM_024450873.1:c.9C>G	XP_024306641.1:p.Val3=
XR_002958056.1:n.833C>G
NM_000023.4:c.315C>G MANE Select	NP_000014.1:p.Val105=
NM_001135697.3:c.315C>G	NP_001129169.1:p.Val105=
NR_135553.2:n.351C>G