Canonical Allele Identifier: CA276659428

Gene: GNPTG

Linked Data

• dbSNP Id: rs962844284
• gnomAD v4: 16-1362927-G-C
• MyVariant Identifiers: chr16:g.1412928G>C (hg19) ; chr16:g.1362927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362927G>C , CM000678.2:g.1362927G>C	GRCh38
NC_000016.9:g.1412928G>C , CM000678.1:g.1412928G>C	GRCh37
NC_000016.8:g.1352929G>C	NCBI36
NG_016985.1:g.16029G>C
NG_033129.1:g.56778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+21G>C
ENST00000529110.2:c.907+21G>C	ENSP00000435349.2:n.907+21G>C
ENST00000529957.6:n.881+21G>C
ENST00000683366.1:c.*555+21G>C	ENSP00000507283.1:n.*555+21G>C
ENST00000683887.1:c.871+21G>C	ENSP00000506886.1:n.871+21G>C
ENST00000684100.1:n.817+21G>C
ENST00000684126.1:n.957+21G>C
ENST00000684688.1:n.1448+21G>C
ENST00000204679.9:c.823+21G>C MANE Select	ENSP00000204679.4:n.823+21G>C
ENST00000204679.8:c.823+21G>C	ENSP00000204679.4:n.823+21G>C
ENST00000527076.1:n.2046+21G>C
ENST00000527168.5:n.990+21G>C
NM_032520.4:c.823+21G>C	NP_115909.1:n.823+21G>C
XM_017023782.1:c.871+21G>C	XP_016879271.1:n.871+21G>C
XM_017023783.1:c.463+21G>C	XP_016879272.1:n.463+21G>C
NM_032520.5:c.823+21G>C MANE Select	NP_115909.1:n.823+21G>C