Canonical Allele Identifier: CA408701238

Gene: GSS

Linked Data

• ClinVar Variation Id: 993915
• ClinVar RCV Id: RCV001812966
• dbSNP Id: rs1440600097
• gnomAD v2: 20-33519855-T-C
• gnomAD v3: 20-34932052-T-C
• gnomAD v4: 20-34932052-T-C
• MyVariant Identifiers: chr20:g.33519855T>C (hg19) ; chr20:g.34932052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932052T>C , CM000682.2:g.34932052T>C	GRCh38
NC_000020.10:g.33519855T>C , CM000682.1:g.33519855T>C	GRCh37
NC_000020.9:g.32983516T>C	NCBI36
NG_008848.1:g.28747A>G
NG_008848.2:g.28976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*556A>G	ENSP00000493524.1:n.*556A>G
ENST00000642498.1:c.916A>G	ENSP00000493631.1:p.Lys306Glu
ENST00000642538.1:c.*260A>G	ENSP00000493927.1:n.*260A>G
ENST00000643188.1:c.916A>G	ENSP00000493903.1:p.Lys306Glu
ENST00000643443.1:c.*623A>G	ENSP00000495572.1:n.*623A>G
ENST00000643502.1:c.573A>G
ENST00000643908.1:n.1134A>G
ENST00000644538.1:n.1193A>G
ENST00000644793.1:c.916A>G	ENSP00000495750.1:p.Lys306Glu
ENST00000645328.1:c.294A>G
ENST00000645408.1:c.449A>G
ENST00000645723.1:n.2155A>G
ENST00000646405.1:c.*334A>G	ENSP00000493744.1:n.*334A>G
ENST00000646497.1:n.861A>G
ENST00000646512.1:n.1062A>G
ENST00000646735.1:c.583A>G	ENSP00000493763.1:p.Lys195Glu
ENST00000651619.1:c.916A>G MANE Select	ENSP00000498303.1:p.Lys306Glu
ENST00000216951.6:c.916A>G	ENSP00000216951.2:p.Lys306Glu
ENST00000451957.2:c.583A>G	ENSP00000407517.2:p.Lys195Glu
NM_000178.2:c.916A>G	NP_000169.1:p.Lys306Glu
XM_005260406.3:c.916A>G	XP_005260463.1:p.Lys306Glu
XM_011528796.1:c.916A>G	XP_011527098.1:p.Lys306Glu
NM_000178.4:c.916A>G MANE Select	NP_000169.1:p.Lys306Glu
NM_001322494.1:c.916A>G	NP_001309423.1:p.Lys306Glu
NM_001322495.1:c.916A>G	NP_001309424.1:p.Lys306Glu