Canonical Allele Identifier: CA493026368

Gene: GNPTG

Linked Data

• dbSNP Id: rs1249578114
• gnomAD v2: 16-1411772-C-T
• gnomAD v3: 16-1361771-C-T
• gnomAD v4: 16-1361771-C-T
• MyVariant Identifiers: chr16:g.1411772C>T (hg19) ; chr16:g.1361771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361771C>T , CM000678.2:g.1361771C>T	GRCh38
NC_000016.9:g.1411772C>T , CM000678.1:g.1411772C>T	GRCh37
NC_000016.8:g.1351773C>T	NCBI36
NG_016985.1:g.14873C>T
NG_033129.1:g.57934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.306C>T
ENST00000529110.2:c.291C>T	ENSP00000435349.2:p.Gly97=
ENST00000529957.6:n.265C>T
ENST00000683366.1:c.179-101C>T	ENSP00000507283.1:n.179-101C>T
ENST00000683887.1:c.255C>T	ENSP00000506886.1:p.Gly85=
ENST00000684100.1:n.127C>T
ENST00000684126.1:n.265C>T
ENST00000684688.1:n.832C>T
ENST00000204679.9:c.207C>T MANE Select	ENSP00000204679.4:p.Gly69=
ENST00000204679.8:c.207C>T	ENSP00000204679.4:p.Gly69=
ENST00000526820.5:c.*109C>T	ENSP00000434413.1:n.*109C>T
ENST00000527076.1:n.1149C>T
ENST00000527168.5:n.270-101C>T
ENST00000529110.1:c.274C>T
ENST00000529957.5:n.306C>T
NM_032520.4:c.207C>T	NP_115909.1:p.Gly69=
XM_017023782.1:c.255C>T	XP_016879271.1:p.Gly85=
XM_017023783.1:c.-154C>T	XP_016879272.1:n.-154C>T
NM_032520.5:c.207C>T MANE Select	NP_115909.1:p.Gly69=