Canonical Allele Identifier: CA493026654

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362625-G-A
• MyVariant Identifiers: chr16:g.1412626G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362625G>A , CM000678.2:g.1362625G>A	GRCh38
NC_000016.9:g.1412626G>A , CM000678.1:g.1412626G>A	GRCh37
NC_000016.8:g.1352627G>A	NCBI36
NG_016985.1:g.15727G>A
NG_033129.1:g.57080C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.723G>A
ENST00000529110.2:c.708G>A	ENSP00000435349.2:p.Leu236=
ENST00000529957.6:n.682G>A
ENST00000683366.1:c.*356G>A	ENSP00000507283.1:n.*356G>A
ENST00000683887.1:c.672G>A	ENSP00000506886.1:p.Leu224=
ENST00000684100.1:n.618G>A
ENST00000684126.1:n.758G>A
ENST00000684688.1:n.1249G>A
ENST00000204679.9:c.624G>A MANE Select	ENSP00000204679.4:p.Leu208=
ENST00000204679.8:c.624G>A	ENSP00000204679.4:p.Leu208=
ENST00000527076.1:n.1847G>A
ENST00000527168.5:n.791G>A
ENST00000529957.5:n.723G>A
NM_032520.4:c.624G>A	NP_115909.1:p.Leu208=
XM_017023782.1:c.672G>A	XP_016879271.1:p.Leu224=
XM_017023783.1:c.264G>A	XP_016879272.1:p.Leu88=
NM_032520.5:c.624G>A MANE Select	NP_115909.1:p.Leu208=