Canonical Allele Identifier: CA7807578

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1005964
• ClinVar RCV Id: RCV001302926 ; RCV001835459
• dbSNP Id: rs201992413
• ExAC: 16:1411915 C / G
• gnomAD v2: 16-1411915-C-G
• gnomAD v4: 16-1361914-C-G
• MyVariant Identifiers: chr16:g.1411915C>G (hg19) ; chr16:g.1361914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361914C>G , CM000678.2:g.1361914C>G	GRCh38
NC_000016.9:g.1411915C>G , CM000678.1:g.1411915C>G	GRCh37
NC_000016.8:g.1351916C>G	NCBI36
NG_016985.1:g.15016C>G
NG_033129.1:g.57791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.375C>G
ENST00000529110.2:c.360C>G	ENSP00000435349.2:p.His120Gln
ENST00000529957.6:n.334C>G
ENST00000683366.1:c.*8C>G	ENSP00000507283.1:n.*8C>G
ENST00000683887.1:c.324C>G	ENSP00000506886.1:p.His108Gln
ENST00000684100.1:n.270C>G
ENST00000684126.1:n.334C>G
ENST00000684688.1:n.901C>G
ENST00000204679.9:c.276C>G MANE Select	ENSP00000204679.4:p.His92Gln
ENST00000204679.8:c.276C>G	ENSP00000204679.4:p.His92Gln
ENST00000526820.5:c.*178C>G	ENSP00000434413.1:n.*178C>G
ENST00000527076.1:n.1292C>G
ENST00000527168.5:n.312C>G
ENST00000529110.1:c.343C>G
ENST00000529957.5:n.375C>G
NM_032520.4:c.276C>G	NP_115909.1:p.His92Gln
XM_017023782.1:c.324C>G	XP_016879271.1:p.His108Gln
XM_017023783.1:c.-85C>G	XP_016879272.1:n.-85C>G
NM_032520.5:c.276C>G MANE Select	NP_115909.1:p.His92Gln