Canonical Allele Identifier: CA620700199

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2727816
• ClinVar RCV Id: RCV003557300
• dbSNP Id: rs1285387143
• gnomAD v2: 16-1412340-G-T
• gnomAD v3: 16-1362339-G-T
• gnomAD v4: 16-1362339-G-T
• MyVariant Identifiers: chr16:g.1412340G>T (hg19) ; chr16:g.1362339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362339G>T , CM000678.2:g.1362339G>T	GRCh38
NC_000016.9:g.1412340G>T , CM000678.1:g.1412340G>T	GRCh37
NC_000016.8:g.1352341G>T	NCBI36
NG_016985.1:g.15441G>T
NG_033129.1:g.57366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+19G>T
ENST00000529110.2:c.610+19G>T	ENSP00000435349.2:n.610+19G>T
ENST00000529957.6:n.584+19G>T
ENST00000683366.1:c.*258+19G>T	ENSP00000507283.1:n.*258+19G>T
ENST00000683887.1:c.574+19G>T	ENSP00000506886.1:n.574+19G>T
ENST00000684100.1:n.520+19G>T
ENST00000684126.1:n.584+19G>T
ENST00000684688.1:n.1151+19G>T
ENST00000204679.9:c.526+19G>T MANE Select	ENSP00000204679.4:n.526+19G>T
ENST00000204679.8:c.526+19G>T	ENSP00000204679.4:n.526+19G>T
ENST00000527076.1:n.1561G>T
ENST00000527168.5:n.581G>T
ENST00000529957.5:n.625+19G>T
NM_032520.4:c.526+19G>T	NP_115909.1:n.526+19G>T
XM_017023782.1:c.574+19G>T	XP_016879271.1:n.574+19G>T
XM_017023783.1:c.166+19G>T	XP_016879272.1:n.166+19G>T
NM_032520.5:c.526+19G>T MANE Select	NP_115909.1:n.526+19G>T