Canonical Allele Identifier: CA276657198

Gene: GNPTG

Linked Data

• dbSNP Id: rs750858322
• gnomAD v2: 16-1412173-C-T
• gnomAD v4: 16-1362172-C-T
• MyVariant Identifiers: chr16:g.1412173C>T (hg19) ; chr16:g.1362172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362172C>T , CM000678.2:g.1362172C>T	GRCh38
NC_000016.9:g.1412173C>T , CM000678.1:g.1412173C>T	GRCh37
NC_000016.8:g.1352174C>T	NCBI36
NG_016985.1:g.15274C>T
NG_033129.1:g.57533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-34C>T
ENST00000529110.2:c.496-34C>T	ENSP00000435349.2:n.496-34C>T
ENST00000529957.6:n.470-34C>T
ENST00000683366.1:c.*144-34C>T	ENSP00000507283.1:n.*144-34C>T
ENST00000683887.1:c.460-34C>T	ENSP00000506886.1:n.460-34C>T
ENST00000684100.1:n.406-34C>T
ENST00000684126.1:n.470-34C>T
ENST00000684688.1:n.1037-34C>T
ENST00000204679.9:c.412-34C>T MANE Select	ENSP00000204679.4:n.412-34C>T
ENST00000204679.8:c.412-34C>T	ENSP00000204679.4:n.412-34C>T
ENST00000527076.1:n.1428-34C>T
ENST00000527168.5:n.448-34C>T
ENST00000529110.1:c.479-34C>T
ENST00000529957.5:n.511-34C>T
NM_032520.4:c.412-34C>T	NP_115909.1:n.412-34C>T
XM_017023782.1:c.460-34C>T	XP_016879271.1:n.460-34C>T
XM_017023783.1:c.52-34C>T	XP_016879272.1:n.52-34C>T
NM_032520.5:c.412-34C>T MANE Select	NP_115909.1:n.412-34C>T