Canonical Allele Identifier: CA620700149

Gene: GNPTG

Linked Data

• dbSNP Id: rs756455159
• gnomAD v2: 16-1412017-T-G
• gnomAD v4: 16-1362016-T-G
• MyVariant Identifiers: chr16:g.1412017T>G (hg19) ; chr16:g.1362016T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362016T>G , CM000678.2:g.1362016T>G	GRCh38
NC_000016.9:g.1412017T>G , CM000678.1:g.1412017T>G	GRCh37
NC_000016.8:g.1352018T>G	NCBI36
NG_016985.1:g.15118T>G
NG_033129.1:g.57689A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-22T>G
ENST00000529110.2:c.402-22T>G	ENSP00000435349.2:n.402-22T>G
ENST00000529957.6:n.376-22T>G
ENST00000683366.1:c.*50-22T>G	ENSP00000507283.1:n.*50-22T>G
ENST00000683887.1:c.366-22T>G	ENSP00000506886.1:n.366-22T>G
ENST00000684100.1:n.312-22T>G
ENST00000684126.1:n.376-22T>G
ENST00000684688.1:n.943-22T>G
ENST00000204679.9:c.318-22T>G MANE Select	ENSP00000204679.4:n.318-22T>G
ENST00000204679.8:c.318-22T>G	ENSP00000204679.4:n.318-22T>G
ENST00000526820.5:c.*220-22T>G	ENSP00000434413.1:n.*220-22T>G
ENST00000527076.1:n.1334-22T>G
ENST00000527168.5:n.354-22T>G
ENST00000529110.1:c.385-22T>G
ENST00000529957.5:n.417-22T>G
NM_032520.4:c.318-22T>G	NP_115909.1:n.318-22T>G
XM_017023782.1:c.366-22T>G	XP_016879271.1:n.366-22T>G
XM_017023783.1:c.-43-22T>G	XP_016879272.1:n.-43-22T>G
NM_032520.5:c.318-22T>G MANE Select	NP_115909.1:n.318-22T>G