Canonical Allele Identifier: CA7807696

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1667118
• ClinVar RCV Id: RCV002195699
• dbSNP Id: rs368718738
• ExAC: 16:1412194 G / A
• gnomAD v2: 16-1412194-G-A
• gnomAD v3: 16-1362193-G-A
• gnomAD v4: 16-1362193-G-A
• MyVariant Identifiers: chr16:g.1412194G>A (hg19) ; chr16:g.1362193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362193G>A , CM000678.2:g.1362193G>A	GRCh38
NC_000016.9:g.1412194G>A , CM000678.1:g.1412194G>A	GRCh37
NC_000016.8:g.1352195G>A	NCBI36
NG_016985.1:g.15295G>A
NG_033129.1:g.57512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-13G>A
ENST00000529110.2:c.496-13G>A	ENSP00000435349.2:n.496-13G>A
ENST00000529957.6:n.470-13G>A
ENST00000683366.1:c.*144-13G>A	ENSP00000507283.1:n.*144-13G>A
ENST00000683887.1:c.460-13G>A	ENSP00000506886.1:n.460-13G>A
ENST00000684100.1:n.406-13G>A
ENST00000684126.1:n.470-13G>A
ENST00000684688.1:n.1037-13G>A
ENST00000204679.9:c.412-13G>A MANE Select	ENSP00000204679.4:n.412-13G>A
ENST00000204679.8:c.412-13G>A	ENSP00000204679.4:n.412-13G>A
ENST00000527076.1:n.1428-13G>A
ENST00000527168.5:n.448-13G>A
ENST00000529110.1:c.479-13G>A
ENST00000529957.5:n.511-13G>A
NM_032520.4:c.412-13G>A	NP_115909.1:n.412-13G>A
XM_017023782.1:c.460-13G>A	XP_016879271.1:n.460-13G>A
XM_017023783.1:c.52-13G>A	XP_016879272.1:n.52-13G>A
NM_032520.5:c.412-13G>A MANE Select	NP_115909.1:n.412-13G>A