Canonical Allele Identifier: CA7807593

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 967579
• ClinVar RCV Id: RCV001242535
• dbSNP Id: rs139385234
• ExAC: 16:1411941 A / G
• gnomAD v2: 16-1411941-A-G
• gnomAD v3: 16-1361940-A-G
• gnomAD v4: 16-1361940-A-G
• MyVariant Identifiers: chr16:g.1411941A>G (hg19) ; chr16:g.1361940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361940A>G , CM000678.2:g.1361940A>G	GRCh38
NC_000016.9:g.1411941A>G , CM000678.1:g.1411941A>G	GRCh37
NC_000016.8:g.1351942A>G	NCBI36
NG_016985.1:g.15042A>G
NG_033129.1:g.57765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.401A>G
ENST00000529110.2:c.386A>G	ENSP00000435349.2:p.Tyr129Cys
ENST00000529957.6:n.360A>G
ENST00000683366.1:c.*34A>G	ENSP00000507283.1:n.*34A>G
ENST00000683887.1:c.350A>G	ENSP00000506886.1:p.Tyr117Cys
ENST00000684100.1:n.296A>G
ENST00000684126.1:n.360A>G
ENST00000684688.1:n.927A>G
ENST00000204679.9:c.302A>G MANE Select	ENSP00000204679.4:p.Tyr101Cys
ENST00000204679.8:c.302A>G	ENSP00000204679.4:p.Tyr101Cys
ENST00000526820.5:c.*204A>G	ENSP00000434413.1:n.*204A>G
ENST00000527076.1:n.1318A>G
ENST00000527168.5:n.338A>G
ENST00000529110.1:c.369A>G
ENST00000529957.5:n.401A>G
NM_032520.4:c.302A>G	NP_115909.1:p.Tyr101Cys
XM_017023782.1:c.350A>G	XP_016879271.1:p.Tyr117Cys
XM_017023783.1:c.-59A>G	XP_016879272.1:n.-59A>G
NM_032520.5:c.302A>G MANE Select	NP_115909.1:p.Tyr101Cys