Canonical Allele Identifier: CA245046

Gene: SGCA

Linked Data

• ClinVar Variation Id: 197094
• ClinVar RCV Id: RCV000178022 ; RCV000344242
• dbSNP Id: rs186669379
• ExAC: 17:48245315 C / T
• gnomAD v2: 17-48245315-C-T
• gnomAD v3: 17-50167954-C-T
• gnomAD v4: 17-50167954-C-T
• MyVariant Identifiers: chr17:g.48245315C>T (hg19) ; chr17:g.50167954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167954C>T , CM000679.2:g.50167954C>T	GRCh38
NC_000017.10:g.48245315C>T , CM000679.1:g.48245315C>T	GRCh37
NC_000017.9:g.45600314C>T	NCBI36
NG_008889.1:g.6950C>T , LRG_203:g.6950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.320C>T	ENSP00000422030.2:p.Ala107Val
ENST00000511303.6:n.45C>T
ENST00000512526.2:c.311C>T	ENSP00000426606.2:p.Ala104Val
ENST00000682109.1:c.200C>T	ENSP00000508041.1:p.Ala67Val
ENST00000683226.1:n.30C>T
ENST00000683294.1:c.320C>T	ENSP00000508134.1:p.Ala107Val
ENST00000262018.8:c.320C>T MANE Select	ENSP00000262018.3:p.Ala107Val
ENST00000262018.7:c.320C>T	ENSP00000262018.3:p.Ala107Val
ENST00000344627.10:c.320C>T	ENSP00000345522.6:p.Ala107Val
ENST00000502555.5:c.165C>T	ENSP00000422817.1:p.Ser55=
ENST00000511303.5:c.41C>T	ENSP00000426104.1:p.Ala14Val
ENST00000512526.1:c.155C>T
ENST00000513821.5:c.320C>T	ENSP00000426571.1:p.Ala107Val
ENST00000513942.5:n.111C>T
ENST00000514934.1:c.*26C>T	ENSP00000423168.1:n.*26C>T
NM_000023.2:c.320C>T , LRG_203t1:c.320C>T	NP_000014.1:p.Ala107Val
NM_001135697.1:c.320C>T	NP_001129169.1:p.Ala107Val
XM_011525120.1:c.320C>T	XP_011523422.1:p.Ala107Val
XM_011525121.1:c.320C>T	XP_011523423.1:p.Ala107Val
XM_011525122.1:c.320C>T	XP_011523424.1:p.Ala107Val
XM_011525123.1:c.320C>T	XP_011523425.1:p.Ala107Val
XM_011525124.1:c.14C>T	XP_011523426.1:p.Ala5Val
XR_934517.1:n.386C>T
NM_000023.3:c.320C>T	NP_000014.1:p.Ala107Val
NM_001135697.2:c.320C>T	NP_001129169.1:p.Ala107Val
NR_135553.1:n.376C>T
XM_011525120.2:c.482C>T	XP_011523422.2:p.Ala161Val
XM_011525121.2:c.482C>T	XP_011523423.2:p.Ala161Val
XM_011525122.2:c.482C>T	XP_011523424.2:p.Ala161Val
XM_011525123.2:c.482C>T	XP_011523425.2:p.Ala161Val
XM_011525124.2:c.14C>T	XP_011523426.1:p.Ala5Val
XM_024450873.1:c.14C>T	XP_024306641.1:p.Ala5Val
XR_002958056.1:n.838C>T
NM_000023.4:c.320C>T MANE Select	NP_000014.1:p.Ala107Val
NM_001135697.3:c.320C>T	NP_001129169.1:p.Ala107Val
NR_135553.2:n.356C>T