Canonical Allele Identifier: CA394188318

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034919426
• gnomAD v4: 16-1362517-G-A
• MyVariant Identifiers: chr16:g.1412518G>A (hg19) ; chr16:g.1362517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362517G>A , CM000678.2:g.1362517G>A	GRCh38
NC_000016.9:g.1412518G>A , CM000678.1:g.1412518G>A	GRCh37
NC_000016.8:g.1352519G>A	NCBI36
NG_016985.1:g.15619G>A
NG_033129.1:g.57188C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.691G>A
ENST00000529110.2:c.676G>A	ENSP00000435349.2:p.Glu226Lys
ENST00000529957.6:n.650G>A
ENST00000683366.1:c.*324G>A	ENSP00000507283.1:n.*324G>A
ENST00000683887.1:c.640G>A	ENSP00000506886.1:p.Glu214Lys
ENST00000684100.1:n.586G>A
ENST00000684126.1:n.650G>A
ENST00000684688.1:n.1217G>A
ENST00000204679.9:c.592G>A MANE Select	ENSP00000204679.4:p.Glu198Lys
ENST00000204679.8:c.592G>A	ENSP00000204679.4:p.Glu198Lys
ENST00000527076.1:n.1739G>A
ENST00000527168.5:n.759G>A
ENST00000529957.5:n.691G>A
NM_032520.4:c.592G>A	NP_115909.1:p.Glu198Lys
XM_017023782.1:c.640G>A	XP_016879271.1:p.Glu214Lys
XM_017023783.1:c.232G>A	XP_016879272.1:p.Glu78Lys
NM_032520.5:c.592G>A MANE Select	NP_115909.1:p.Glu198Lys