Canonical Allele Identifier: CA7807637

Gene: GNPTG

Linked Data

• dbSNP Id: rs745850911
• ExAC: 16:1412044 G / A
• gnomAD v2: 16-1412044-G-A
• gnomAD v4: 16-1362043-G-A
• MyVariant Identifiers: chr16:g.1412044G>A (hg19) ; chr16:g.1362043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362043G>A , CM000678.2:g.1362043G>A	GRCh38
NC_000016.9:g.1412044G>A , CM000678.1:g.1412044G>A	GRCh37
NC_000016.8:g.1352045G>A	NCBI36
NG_016985.1:g.15145G>A
NG_033129.1:g.57662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.422G>A
ENST00000529110.2:c.407G>A	ENSP00000435349.2:p.Trp136Ter
ENST00000529957.6:n.381G>A
ENST00000683366.1:c.*55G>A	ENSP00000507283.1:n.*55G>A
ENST00000683887.1:c.371G>A	ENSP00000506886.1:p.Trp124Ter
ENST00000684100.1:n.317G>A
ENST00000684126.1:n.381G>A
ENST00000684688.1:n.948G>A
ENST00000204679.9:c.323G>A MANE Select	ENSP00000204679.4:p.Trp108Ter
ENST00000204679.8:c.323G>A	ENSP00000204679.4:p.Trp108Ter
ENST00000526820.5:c.*225G>A	ENSP00000434413.1:n.*225G>A
ENST00000527076.1:n.1339G>A
ENST00000527168.5:n.359G>A
ENST00000529110.1:c.390G>A
ENST00000529957.5:n.422G>A
NM_032520.4:c.323G>A	NP_115909.1:p.Trp108Ter
XM_017023782.1:c.371G>A	XP_016879271.1:p.Trp124Ter
XM_017023783.1:c.-38G>A	XP_016879272.1:n.-38G>A
NM_032520.5:c.323G>A MANE Select	NP_115909.1:p.Trp108Ter