Canonical Allele Identifier: CA408702245

Gene: GSS

Linked Data

• ClinVar Variation Id: 1163160
• ClinVar RCV Id: RCV001507983
• dbSNP Id: rs2147124776
• MyVariant Identifiers: chr20:g.33523398G>A (hg19) ; chr20:g.34935595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935595G>A , CM000682.2:g.34935595G>A	GRCh38
NC_000020.10:g.33523398G>A , CM000682.1:g.33523398G>A	GRCh37
NC_000020.9:g.32987059G>A	NCBI36
NG_008848.1:g.25204C>T
NG_008848.2:g.25433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1168C>T	ENSP00000493524.1:n.*474+1168C>T
ENST00000642498.1:c.815C>T	ENSP00000493631.1:p.Pro272Leu
ENST00000642538.1:c.*159C>T	ENSP00000493927.1:n.*159C>T
ENST00000643188.1:c.815C>T	ENSP00000493903.1:p.Pro272Leu
ENST00000643443.1:c.*522C>T	ENSP00000495572.1:n.*522C>T
ENST00000643502.1:c.472C>T
ENST00000643908.1:n.1052+1348C>T
ENST00000644538.1:n.1092C>T
ENST00000644793.1:c.815C>T	ENSP00000495750.1:p.Pro272Leu
ENST00000645328.1:c.193C>T
ENST00000645408.1:c.367+1168C>T
ENST00000645723.1:n.2054C>T
ENST00000646405.1:c.*252+1168C>T	ENSP00000493744.1:n.*252+1168C>T
ENST00000646497.1:n.760C>T
ENST00000646502.1:n.1297C>T
ENST00000646512.1:n.980+1168C>T
ENST00000646735.1:c.482C>T	ENSP00000493763.1:p.Pro161Leu
ENST00000651619.1:c.815C>T MANE Select	ENSP00000498303.1:p.Pro272Leu
ENST00000216951.6:c.815C>T	ENSP00000216951.2:p.Pro272Leu
ENST00000451957.2:c.482C>T	ENSP00000407517.2:p.Pro161Leu
NM_000178.2:c.815C>T	NP_000169.1:p.Pro272Leu
XM_005260406.3:c.815C>T	XP_005260463.1:p.Pro272Leu
XM_011528796.1:c.815C>T	XP_011527098.1:p.Pro272Leu
NM_000178.4:c.815C>T MANE Select	NP_000169.1:p.Pro272Leu
NM_001322494.1:c.815C>T	NP_001309423.1:p.Pro272Leu
NM_001322495.1:c.815C>T	NP_001309424.1:p.Pro272Leu