Canonical Allele Identifier: CA7807510

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2720533
• ClinVar RCV Id: RCV003554094
• dbSNP Id: rs763430254
• ExAC: 16:1411726 G / A
• gnomAD v2: 16-1411726-G-A
• gnomAD v3: 16-1361725-G-A
• gnomAD v4: 16-1361725-G-A
• MyVariant Identifiers: chr16:g.1411726G>A (hg19) ; chr16:g.1361725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361725G>A , CM000678.2:g.1361725G>A	GRCh38
NC_000016.9:g.1411726G>A , CM000678.1:g.1411726G>A	GRCh37
NC_000016.8:g.1351727G>A	NCBI36
NG_016985.1:g.14827G>A
NG_033129.1:g.57980C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-18G>A
ENST00000529110.2:c.263-18G>A	ENSP00000435349.2:n.263-18G>A
ENST00000529957.6:n.237-18G>A
ENST00000683366.1:c.179-147G>A	ENSP00000507283.1:n.179-147G>A
ENST00000683887.1:c.209G>A	ENSP00000506886.1:p.Ser70Asn
ENST00000684100.1:n.81G>A
ENST00000684126.1:n.237-18G>A
ENST00000684688.1:n.786G>A
ENST00000204679.9:c.179-18G>A MANE Select	ENSP00000204679.4:n.179-18G>A
ENST00000204679.8:c.179-18G>A	ENSP00000204679.4:n.179-18G>A
ENST00000526820.5:c.*81-18G>A	ENSP00000434413.1:n.*81-18G>A
ENST00000527076.1:n.1103G>A
ENST00000527168.5:n.270-147G>A
ENST00000529110.1:c.246-18G>A
ENST00000529957.5:n.278-18G>A
NM_032520.4:c.179-18G>A	NP_115909.1:n.179-18G>A
XM_017023782.1:c.209G>A	XP_016879271.1:p.Ser70Asn
XM_017023783.1:c.-182-18G>A	XP_016879272.1:n.-182-18G>A
NM_032520.5:c.179-18G>A MANE Select	NP_115909.1:n.179-18G>A