Canonical Allele Identifier: CA7807682

Gene: GNPTG

Linked Data

• dbSNP Id: rs760008789
• ExAC: 16:1412172 T / A
• gnomAD v2: 16-1412172-T-A
• gnomAD v4: 16-1362171-T-A
• MyVariant Identifiers: chr16:g.1412172T>A (hg19) ; chr16:g.1362171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362171T>A , CM000678.2:g.1362171T>A	GRCh38
NC_000016.9:g.1412172T>A , CM000678.1:g.1412172T>A	GRCh37
NC_000016.8:g.1352173T>A	NCBI36
NG_016985.1:g.15273T>A
NG_033129.1:g.57534A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-35T>A
ENST00000529110.2:c.496-35T>A	ENSP00000435349.2:n.496-35T>A
ENST00000529957.6:n.470-35T>A
ENST00000683366.1:c.*144-35T>A	ENSP00000507283.1:n.*144-35T>A
ENST00000683887.1:c.460-35T>A	ENSP00000506886.1:n.460-35T>A
ENST00000684100.1:n.406-35T>A
ENST00000684126.1:n.470-35T>A
ENST00000684688.1:n.1037-35T>A
ENST00000204679.9:c.412-35T>A MANE Select	ENSP00000204679.4:n.412-35T>A
ENST00000204679.8:c.412-35T>A	ENSP00000204679.4:n.412-35T>A
ENST00000527076.1:n.1428-35T>A
ENST00000527168.5:n.448-35T>A
ENST00000529110.1:c.479-35T>A
ENST00000529957.5:n.511-35T>A
NM_032520.4:c.412-35T>A	NP_115909.1:n.412-35T>A
XM_017023782.1:c.460-35T>A	XP_016879271.1:n.460-35T>A
XM_017023783.1:c.52-35T>A	XP_016879272.1:n.52-35T>A
NM_032520.5:c.412-35T>A MANE Select	NP_115909.1:n.412-35T>A