Canonical Allele Identifier: CA620700135

Gene: GNPTG

Linked Data

• dbSNP Id: rs1294766366
• gnomAD v2: 16-1411859-A-G
• gnomAD v4: 16-1361858-A-G
• MyVariant Identifiers: chr16:g.1411859A>G (hg19) ; chr16:g.1361858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361858A>G , CM000678.2:g.1361858A>G	GRCh38
NC_000016.9:g.1411859A>G , CM000678.1:g.1411859A>G	GRCh37
NC_000016.8:g.1351860A>G	NCBI36
NG_016985.1:g.14960A>G
NG_033129.1:g.57847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-14A>G
ENST00000529110.2:c.318-14A>G	ENSP00000435349.2:n.318-14A>G
ENST00000529957.6:n.292-14A>G
ENST00000683366.1:c.179-14A>G	ENSP00000507283.1:n.179-14A>G
ENST00000683887.1:c.282-14A>G	ENSP00000506886.1:n.282-14A>G
ENST00000684100.1:n.214A>G
ENST00000684126.1:n.292-14A>G
ENST00000684688.1:n.859-14A>G
ENST00000204679.9:c.234-14A>G MANE Select	ENSP00000204679.4:n.234-14A>G
ENST00000204679.8:c.234-14A>G	ENSP00000204679.4:n.234-14A>G
ENST00000526820.5:c.*136-14A>G	ENSP00000434413.1:n.*136-14A>G
ENST00000527076.1:n.1236A>G
ENST00000527168.5:n.270-14A>G
ENST00000529110.1:c.301-14A>G
ENST00000529957.5:n.333-14A>G
NM_032520.4:c.234-14A>G	NP_115909.1:n.234-14A>G
XM_017023782.1:c.282-14A>G	XP_016879271.1:n.282-14A>G
XM_017023783.1:c.-127-14A>G	XP_016879272.1:n.-127-14A>G
NM_032520.5:c.234-14A>G MANE Select	NP_115909.1:n.234-14A>G