Canonical Allele Identifier: CA7807698
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 1942434
ClinVar RCV Id: RCV002653802
dbSNP Id: rs747713846
gnomAD v2: 16-1412201-C-A
gnomAD v4: 16-1362200-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362200C>A , CM000678.2:g.1362200C>A GRCh38
NC_000016.9:g.1412201C>A , CM000678.1:g.1412201C>A GRCh37
NC_000016.8:g.1352202C>A NCBI36
NG_016985.1:g.15302C>A
NG_033129.1:g.57505G>T

Transcript Alleles

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