Canonical Allele Identifier: CA7807630

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2044614
• ClinVar RCV Id: RCV002900305
• dbSNP Id: rs779191841
• ExAC: 16:1412026 C / G
• gnomAD v2: 16-1412026-C-G
• gnomAD v3: 16-1362025-C-G
• gnomAD v4: 16-1362025-C-G
• MyVariant Identifiers: chr16:g.1412026C>G (hg19) ; chr16:g.1362025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362025C>G , CM000678.2:g.1362025C>G	GRCh38
NC_000016.9:g.1412026C>G , CM000678.1:g.1412026C>G	GRCh37
NC_000016.8:g.1352027C>G	NCBI36
NG_016985.1:g.15127C>G
NG_033129.1:g.57680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.417-13C>G
ENST00000529110.2:c.402-13C>G	ENSP00000435349.2:n.402-13C>G
ENST00000529957.6:n.376-13C>G
ENST00000683366.1:c.*50-13C>G	ENSP00000507283.1:n.*50-13C>G
ENST00000683887.1:c.366-13C>G	ENSP00000506886.1:n.366-13C>G
ENST00000684100.1:n.312-13C>G
ENST00000684126.1:n.376-13C>G
ENST00000684688.1:n.943-13C>G
ENST00000204679.9:c.318-13C>G MANE Select	ENSP00000204679.4:n.318-13C>G
ENST00000204679.8:c.318-13C>G	ENSP00000204679.4:n.318-13C>G
ENST00000526820.5:c.*220-13C>G	ENSP00000434413.1:n.*220-13C>G
ENST00000527076.1:n.1334-13C>G
ENST00000527168.5:n.354-13C>G
ENST00000529110.1:c.385-13C>G
ENST00000529957.5:n.417-13C>G
NM_032520.4:c.318-13C>G	NP_115909.1:n.318-13C>G
XM_017023782.1:c.366-13C>G	XP_016879271.1:n.366-13C>G
XM_017023783.1:c.-43-13C>G	XP_016879272.1:n.-43-13C>G
NM_032520.5:c.318-13C>G MANE Select	NP_115909.1:n.318-13C>G