Canonical Allele Identifier: CA7807553

Gene: GNPTG

Linked Data

• dbSNP Id: rs776752687
• ExAC: 16:1411854 A / C
• gnomAD v2: 16-1411854-A-C
• gnomAD v4: 16-1361853-A-C
• MyVariant Identifiers: chr16:g.1411854A>C (hg19) ; chr16:g.1361853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361853A>C , CM000678.2:g.1361853A>C	GRCh38
NC_000016.9:g.1411854A>C , CM000678.1:g.1411854A>C	GRCh37
NC_000016.8:g.1351855A>C	NCBI36
NG_016985.1:g.14955A>C
NG_033129.1:g.57852T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-19A>C
ENST00000529110.2:c.318-19A>C	ENSP00000435349.2:n.318-19A>C
ENST00000529957.6:n.292-19A>C
ENST00000683366.1:c.179-19A>C	ENSP00000507283.1:n.179-19A>C
ENST00000683887.1:c.282-19A>C	ENSP00000506886.1:n.282-19A>C
ENST00000684100.1:n.209A>C
ENST00000684126.1:n.292-19A>C
ENST00000684688.1:n.859-19A>C
ENST00000204679.9:c.234-19A>C MANE Select	ENSP00000204679.4:n.234-19A>C
ENST00000204679.8:c.234-19A>C	ENSP00000204679.4:n.234-19A>C
ENST00000526820.5:c.*136-19A>C	ENSP00000434413.1:n.*136-19A>C
ENST00000527076.1:n.1231A>C
ENST00000527168.5:n.270-19A>C
ENST00000529110.1:c.301-19A>C
ENST00000529957.5:n.333-19A>C
NM_032520.4:c.234-19A>C	NP_115909.1:n.234-19A>C
XM_017023782.1:c.282-19A>C	XP_016879271.1:n.282-19A>C
XM_017023783.1:c.-127-19A>C	XP_016879272.1:n.-127-19A>C
NM_032520.5:c.234-19A>C MANE Select	NP_115909.1:n.234-19A>C