Canonical Allele Identifier: CA7807574

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1041136
• ClinVar RCV Id: RCV001344893 ; RCV001831110
• dbSNP Id: rs775604993
• ExAC: 16:1411902 A / G
• gnomAD v2: 16-1411902-A-G
• gnomAD v3: 16-1361901-A-G
• gnomAD v4: 16-1361901-A-G
• MyVariant Identifiers: chr16:g.1411902A>G (hg19) ; chr16:g.1361901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361901A>G , CM000678.2:g.1361901A>G	GRCh38
NC_000016.9:g.1411902A>G , CM000678.1:g.1411902A>G	GRCh37
NC_000016.8:g.1351903A>G	NCBI36
NG_016985.1:g.15003A>G
NG_033129.1:g.57804T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.362A>G
ENST00000529110.2:c.347A>G	ENSP00000435349.2:p.Asn116Ser
ENST00000529957.6:n.321A>G
ENST00000683366.1:c.208A>G	ENSP00000507283.1:p.Thr70Ala
ENST00000683887.1:c.311A>G	ENSP00000506886.1:p.Asn104Ser
ENST00000684100.1:n.257A>G
ENST00000684126.1:n.321A>G
ENST00000684688.1:n.888A>G
ENST00000204679.9:c.263A>G MANE Select	ENSP00000204679.4:p.Asn88Ser
ENST00000204679.8:c.263A>G	ENSP00000204679.4:p.Asn88Ser
ENST00000526820.5:c.*165A>G	ENSP00000434413.1:n.*165A>G
ENST00000527076.1:n.1279A>G
ENST00000527168.5:n.299A>G
ENST00000529110.1:c.330A>G
ENST00000529957.5:n.362A>G
NM_032520.4:c.263A>G	NP_115909.1:p.Asn88Ser
XM_017023782.1:c.311A>G	XP_016879271.1:p.Asn104Ser
XM_017023783.1:c.-98A>G	XP_016879272.1:n.-98A>G
NM_032520.5:c.263A>G MANE Select	NP_115909.1:p.Asn88Ser