Canonical Allele Identifier: CA7807958

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2153626
• ClinVar RCV Id: RCV003077707
• dbSNP Id: rs776873106
• ExAC: 16:1412885 C / T
• gnomAD v3: 16-1362884-C-T
• gnomAD v4: 16-1362884-C-T
• MyVariant Identifiers: chr16:g.1412885C>T (hg19) ; chr16:g.1362884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362884C>T , CM000678.2:g.1362884C>T	GRCh38
NC_000016.9:g.1412885C>T , CM000678.1:g.1412885C>T	GRCh37
NC_000016.8:g.1352886C>T	NCBI36
NG_016985.1:g.15986C>T
NG_033129.1:g.56821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.900C>T
ENST00000529110.2:c.885C>T	ENSP00000435349.2:p.Gly295=
ENST00000529957.6:n.859C>T
ENST00000683366.1:c.*533C>T	ENSP00000507283.1:n.*533C>T
ENST00000683887.1:c.849C>T	ENSP00000506886.1:p.Gly283=
ENST00000684100.1:n.795C>T
ENST00000684126.1:n.935C>T
ENST00000684688.1:n.1426C>T
ENST00000204679.9:c.801C>T MANE Select	ENSP00000204679.4:p.Gly267=
ENST00000204679.8:c.801C>T	ENSP00000204679.4:p.Gly267=
ENST00000527076.1:n.2024C>T
ENST00000527168.5:n.968C>T
ENST00000529957.5:n.900C>T
NM_032520.4:c.801C>T	NP_115909.1:p.Gly267=
XM_017023782.1:c.849C>T	XP_016879271.1:p.Gly283=
XM_017023783.1:c.441C>T	XP_016879272.1:p.Gly147=
NM_032520.5:c.801C>T MANE Select	NP_115909.1:p.Gly267=