Canonical Allele Identifier: CA7807840

Gene: GNPTG

Linked Data

• dbSNP Id: rs769398814
• ExAC: 16:1412563 G / C
• gnomAD v2: 16-1412563-G-C
• gnomAD v3: 16-1362562-G-C
• gnomAD v4: 16-1362562-G-C
• MyVariant Identifiers: chr16:g.1412563G>C (hg19) ; chr16:g.1362562G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362562G>C , CM000678.2:g.1362562G>C	GRCh38
NC_000016.9:g.1412563G>C , CM000678.1:g.1412563G>C	GRCh37
NC_000016.8:g.1352564G>C	NCBI36
NG_016985.1:g.15664G>C
NG_033129.1:g.57143C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+28G>C
ENST00000529110.2:c.693+28G>C	ENSP00000435349.2:n.693+28G>C
ENST00000529957.6:n.667+28G>C
ENST00000683366.1:c.*341+28G>C	ENSP00000507283.1:n.*341+28G>C
ENST00000683887.1:c.657+28G>C	ENSP00000506886.1:n.657+28G>C
ENST00000684100.1:n.603+28G>C
ENST00000684126.1:n.695G>C
ENST00000684688.1:n.1234+28G>C
ENST00000204679.9:c.609+28G>C MANE Select	ENSP00000204679.4:n.609+28G>C
ENST00000204679.8:c.609+28G>C	ENSP00000204679.4:n.609+28G>C
ENST00000527076.1:n.1784G>C
ENST00000527168.5:n.776+28G>C
ENST00000529957.5:n.708+28G>C
NM_032520.4:c.609+28G>C	NP_115909.1:n.609+28G>C
XM_017023782.1:c.657+28G>C	XP_016879271.1:n.657+28G>C
XM_017023783.1:c.249+28G>C	XP_016879272.1:n.249+28G>C
NM_032520.5:c.609+28G>C MANE Select	NP_115909.1:n.609+28G>C