Canonical Allele Identifier: CA718229660

Gene: GNPTG

Linked Data

• dbSNP Id: rs1425348219
• gnomAD v3: 16-1362772-C-T
• gnomAD v4: 16-1362772-C-T
• MyVariant Identifiers: chr16:g.1412773C>T (hg19) ; chr16:g.1362772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362772C>T , CM000678.2:g.1362772C>T	GRCh38
NC_000016.9:g.1412773C>T , CM000678.1:g.1412773C>T	GRCh37
NC_000016.8:g.1352774C>T	NCBI36
NG_016985.1:g.15874C>T
NG_033129.1:g.56933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+30C>T
ENST00000529110.2:c.825+30C>T	ENSP00000435349.2:n.825+30C>T
ENST00000529957.6:n.799+30C>T
ENST00000683366.1:c.*473+30C>T	ENSP00000507283.1:n.*473+30C>T
ENST00000683887.1:c.789+30C>T	ENSP00000506886.1:n.789+30C>T
ENST00000684100.1:n.735+30C>T
ENST00000684126.1:n.875+30C>T
ENST00000684688.1:n.1366+30C>T
ENST00000204679.9:c.741+30C>T MANE Select	ENSP00000204679.4:n.741+30C>T
ENST00000204679.8:c.741+30C>T	ENSP00000204679.4:n.741+30C>T
ENST00000527076.1:n.1964+30C>T
ENST00000527168.5:n.908+30C>T
ENST00000529957.5:n.840+30C>T
NM_032520.4:c.741+30C>T	NP_115909.1:n.741+30C>T
XM_017023782.1:c.789+30C>T	XP_016879271.1:n.789+30C>T
XM_017023783.1:c.381+30C>T	XP_016879272.1:n.381+30C>T
NM_032520.5:c.741+30C>T MANE Select	NP_115909.1:n.741+30C>T