Canonical Allele Identifier: CA7807581

Gene: GNPTG

Linked Data

• dbSNP Id: rs756056220
• ExAC: 16:1411923 C / A
• gnomAD v2: 16-1411923-C-A
• gnomAD v3: 16-1361922-C-A
• gnomAD v4: 16-1361922-C-A
• MyVariant Identifiers: chr16:g.1411923C>A (hg19) ; chr16:g.1361922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361922C>A , CM000678.2:g.1361922C>A	GRCh38
NC_000016.9:g.1411923C>A , CM000678.1:g.1411923C>A	GRCh37
NC_000016.8:g.1351924C>A	NCBI36
NG_016985.1:g.15024C>A
NG_033129.1:g.57783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.383C>A
ENST00000529110.2:c.368C>A	ENSP00000435349.2:p.Thr123Asn
ENST00000529957.6:n.342C>A
ENST00000683366.1:c.*16C>A	ENSP00000507283.1:n.*16C>A
ENST00000683887.1:c.332C>A	ENSP00000506886.1:p.Thr111Asn
ENST00000684100.1:n.278C>A
ENST00000684126.1:n.342C>A
ENST00000684688.1:n.909C>A
ENST00000204679.9:c.284C>A MANE Select	ENSP00000204679.4:p.Thr95Asn
ENST00000204679.8:c.284C>A	ENSP00000204679.4:p.Thr95Asn
ENST00000526820.5:c.*186C>A	ENSP00000434413.1:n.*186C>A
ENST00000527076.1:n.1300C>A
ENST00000527168.5:n.320C>A
ENST00000529110.1:c.351C>A
ENST00000529957.5:n.383C>A
NM_032520.4:c.284C>A	NP_115909.1:p.Thr95Asn
XM_017023782.1:c.332C>A	XP_016879271.1:p.Thr111Asn
XM_017023783.1:c.-77C>A	XP_016879272.1:n.-77C>A
NM_032520.5:c.284C>A MANE Select	NP_115909.1:p.Thr95Asn