Canonical Allele Identifier: CA394186994

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1367242
• ClinVar RCV Id: RCV001932435
• dbSNP Id: rs757581909
• gnomAD v4: 16-1361932-G-A
• MyVariant Identifiers: chr16:g.1411933G>A (hg19) ; chr16:g.1361932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361932G>A , CM000678.2:g.1361932G>A	GRCh38
NC_000016.9:g.1411933G>A , CM000678.1:g.1411933G>A	GRCh37
NC_000016.8:g.1351934G>A	NCBI36
NG_016985.1:g.15034G>A
NG_033129.1:g.57773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.393G>A
ENST00000529110.2:c.378G>A	ENSP00000435349.2:p.Trp126Ter
ENST00000529957.6:n.352G>A
ENST00000683366.1:c.*26G>A	ENSP00000507283.1:n.*26G>A
ENST00000683887.1:c.342G>A	ENSP00000506886.1:p.Trp114Ter
ENST00000684100.1:n.288G>A
ENST00000684126.1:n.352G>A
ENST00000684688.1:n.919G>A
ENST00000204679.9:c.294G>A MANE Select	ENSP00000204679.4:p.Trp98Ter
ENST00000204679.8:c.294G>A	ENSP00000204679.4:p.Trp98Ter
ENST00000526820.5:c.*196G>A	ENSP00000434413.1:n.*196G>A
ENST00000527076.1:n.1310G>A
ENST00000527168.5:n.330G>A
ENST00000529110.1:c.361G>A
ENST00000529957.5:n.393G>A
NM_032520.4:c.294G>A	NP_115909.1:p.Trp98Ter
XM_017023782.1:c.342G>A	XP_016879271.1:p.Trp114Ter
XM_017023783.1:c.-67G>A	XP_016879272.1:n.-67G>A
NM_032520.5:c.294G>A MANE Select	NP_115909.1:p.Trp98Ter