Canonical Allele Identifier: CA7807632

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1592998
• ClinVar RCV Id: RCV002112544
• dbSNP Id: rs375764145
• ExAC: 16:1412027 G / T
• gnomAD v2: 16-1412027-G-T
• gnomAD v3: 16-1362026-G-T
• gnomAD v4: 16-1362026-G-T
• MyVariant Identifiers: chr16:g.1412027G>T (hg19) ; chr16:g.1362026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362026G>T , CM000678.2:g.1362026G>T	GRCh38
NC_000016.9:g.1412027G>T , CM000678.1:g.1412027G>T	GRCh37
NC_000016.8:g.1352028G>T	NCBI36
NG_016985.1:g.15128G>T
NG_033129.1:g.57679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.417-12G>T
ENST00000529110.2:c.402-12G>T	ENSP00000435349.2:n.402-12G>T
ENST00000529957.6:n.376-12G>T
ENST00000683366.1:c.*50-12G>T	ENSP00000507283.1:n.*50-12G>T
ENST00000683887.1:c.366-12G>T	ENSP00000506886.1:n.366-12G>T
ENST00000684100.1:n.312-12G>T
ENST00000684126.1:n.376-12G>T
ENST00000684688.1:n.943-12G>T
ENST00000204679.9:c.318-12G>T MANE Select	ENSP00000204679.4:n.318-12G>T
ENST00000204679.8:c.318-12G>T	ENSP00000204679.4:n.318-12G>T
ENST00000526820.5:c.*220-12G>T	ENSP00000434413.1:n.*220-12G>T
ENST00000527076.1:n.1334-12G>T
ENST00000527168.5:n.354-12G>T
ENST00000529110.1:c.385-12G>T
ENST00000529957.5:n.417-12G>T
NM_032520.4:c.318-12G>T	NP_115909.1:n.318-12G>T
XM_017023782.1:c.366-12G>T	XP_016879271.1:n.366-12G>T
XM_017023783.1:c.-43-12G>T	XP_016879272.1:n.-43-12G>T
NM_032520.5:c.318-12G>T MANE Select	NP_115909.1:n.318-12G>T