Canonical Allele Identifier: CA7807843

Gene: GNPTG

Linked Data

• dbSNP Id: rs180901866
• ExAC: 16:1412568 C / T
• gnomAD v2: 16-1412568-C-T
• gnomAD v3: 16-1362567-C-T
• gnomAD v4: 16-1362567-C-T
• MyVariant Identifiers: chr16:g.1412568C>T (hg19) ; chr16:g.1362567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362567C>T , CM000678.2:g.1362567C>T	GRCh38
NC_000016.9:g.1412568C>T , CM000678.1:g.1412568C>T	GRCh37
NC_000016.8:g.1352569C>T	NCBI36
NG_016985.1:g.15669C>T
NG_033129.1:g.57138G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+33C>T
ENST00000529110.2:c.693+33C>T	ENSP00000435349.2:n.693+33C>T
ENST00000529957.6:n.667+33C>T
ENST00000683366.1:c.*341+33C>T	ENSP00000507283.1:n.*341+33C>T
ENST00000683887.1:c.657+33C>T	ENSP00000506886.1:n.657+33C>T
ENST00000684100.1:n.603+33C>T
ENST00000684126.1:n.700C>T
ENST00000684688.1:n.1234+33C>T
ENST00000204679.9:c.609+33C>T MANE Select	ENSP00000204679.4:n.609+33C>T
ENST00000204679.8:c.609+33C>T	ENSP00000204679.4:n.609+33C>T
ENST00000527076.1:n.1789C>T
ENST00000527168.5:n.776+33C>T
ENST00000529957.5:n.708+33C>T
NM_032520.4:c.609+33C>T	NP_115909.1:n.609+33C>T
XM_017023782.1:c.657+33C>T	XP_016879271.1:n.657+33C>T
XM_017023783.1:c.249+33C>T	XP_016879272.1:n.249+33C>T
NM_032520.5:c.609+33C>T MANE Select	NP_115909.1:n.609+33C>T