Canonical Allele Identifier: CA7807554

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1567772
• ClinVar RCV Id: RCV002210208
• dbSNP Id: rs759479821
• ExAC: 16:1411856 G / A
• gnomAD v2: 16-1411856-G-A
• gnomAD v3: 16-1361855-G-A
• gnomAD v4: 16-1361855-G-A
• MyVariant Identifiers: chr16:g.1411856G>A (hg19) ; chr16:g.1361855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361855G>A , CM000678.2:g.1361855G>A	GRCh38
NC_000016.9:g.1411856G>A , CM000678.1:g.1411856G>A	GRCh37
NC_000016.8:g.1351857G>A	NCBI36
NG_016985.1:g.14957G>A
NG_033129.1:g.57850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-17G>A
ENST00000529110.2:c.318-17G>A	ENSP00000435349.2:n.318-17G>A
ENST00000529957.6:n.292-17G>A
ENST00000683366.1:c.179-17G>A	ENSP00000507283.1:n.179-17G>A
ENST00000683887.1:c.282-17G>A	ENSP00000506886.1:n.282-17G>A
ENST00000684100.1:n.211G>A
ENST00000684126.1:n.292-17G>A
ENST00000684688.1:n.859-17G>A
ENST00000204679.9:c.234-17G>A MANE Select	ENSP00000204679.4:n.234-17G>A
ENST00000204679.8:c.234-17G>A	ENSP00000204679.4:n.234-17G>A
ENST00000526820.5:c.*136-17G>A	ENSP00000434413.1:n.*136-17G>A
ENST00000527076.1:n.1233G>A
ENST00000527168.5:n.270-17G>A
ENST00000529110.1:c.301-17G>A
ENST00000529957.5:n.333-17G>A
NM_032520.4:c.234-17G>A	NP_115909.1:n.234-17G>A
XM_017023782.1:c.282-17G>A	XP_016879271.1:n.282-17G>A
XM_017023783.1:c.-127-17G>A	XP_016879272.1:n.-127-17G>A
NM_032520.5:c.234-17G>A MANE Select	NP_115909.1:n.234-17G>A