Canonical Allele Identifier: CA9825812

Gene: GSS

Linked Data

• ClinVar Variation Id: 388152
• ClinVar RCV Id: RCV000428154
• dbSNP Id: rs374682233
• ExAC: 20:33516757 A / G
• gnomAD v2: 20-33516757-A-G
• gnomAD v3: 20-34928954-A-G
• gnomAD v4: 20-34928954-A-G
• MyVariant Identifiers: chr20:g.33516757A>G (hg19) ; chr20:g.34928954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34928954A>G , CM000682.2:g.34928954A>G	GRCh38
NC_000020.10:g.33516757A>G , CM000682.1:g.33516757A>G	GRCh37
NC_000020.9:g.32980418A>G	NCBI36
NG_008848.1:g.31845T>C
NG_011520.1:g.59013A>G
NG_008848.2:g.32074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.*232T>C	ENSP00000493631.1:n.*232T>C
ENST00000643188.1:c.1302-3T>C	ENSP00000493903.1:n.1302-3T>C
ENST00000643443.1:c.*1009-3T>C	ENSP00000495572.1:n.*1009-3T>C
ENST00000643502.1:c.959-3T>C
ENST00000643908.1:n.1520-3T>C
ENST00000644538.1:n.1579-3T>C
ENST00000644793.1:c.1302-3T>C	ENSP00000495750.1:n.1302-3T>C
ENST00000645328.1:c.490-3T>C
ENST00000645723.1:n.2541-3T>C
ENST00000646405.1:c.*720-3T>C	ENSP00000493744.1:n.*720-3T>C
ENST00000646512.1:n.1448-3T>C
ENST00000646735.1:c.969-3T>C	ENSP00000493763.1:n.969-3T>C
ENST00000651619.1:c.1302-3T>C MANE Select	ENSP00000498303.1:n.1302-3T>C
ENST00000216951.6:c.1302-3T>C	ENSP00000216951.2:n.1302-3T>C
ENST00000451957.2:c.969-3T>C	ENSP00000407517.2:n.969-3T>C
NM_000178.2:c.1302-3T>C	NP_000169.1:n.1302-3T>C
XM_005260406.3:c.1302-3T>C	XP_005260463.1:n.1302-3T>C
XM_011528796.1:c.1302-3T>C	XP_011527098.1:n.1302-3T>C
NM_000178.4:c.1302-3T>C MANE Select	NP_000169.1:n.1302-3T>C
NM_001322494.1:c.1302-3T>C	NP_001309423.1:n.1302-3T>C
NM_001322495.1:c.1302-3T>C	NP_001309424.1:n.1302-3T>C