Canonical Allele Identifier: CA276659068

Gene: GNPTG

Linked Data

• dbSNP Id: rs1054675795
• gnomAD v2: 16-1412784-C-T
• gnomAD v3: 16-1362783-C-T
• gnomAD v4: 16-1362783-C-T
• MyVariant Identifiers: chr16:g.1412784C>T (hg19) ; chr16:g.1362783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362783C>T , CM000678.2:g.1362783C>T	GRCh38
NC_000016.9:g.1412784C>T , CM000678.1:g.1412784C>T	GRCh37
NC_000016.8:g.1352785C>T	NCBI36
NG_016985.1:g.15885C>T
NG_033129.1:g.56922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-42C>T
ENST00000529110.2:c.826-42C>T	ENSP00000435349.2:n.826-42C>T
ENST00000529957.6:n.800-42C>T
ENST00000683366.1:c.*474-42C>T	ENSP00000507283.1:n.*474-42C>T
ENST00000683887.1:c.790-42C>T	ENSP00000506886.1:n.790-42C>T
ENST00000684100.1:n.736-42C>T
ENST00000684126.1:n.876-42C>T
ENST00000684688.1:n.1367-42C>T
ENST00000204679.9:c.742-42C>T MANE Select	ENSP00000204679.4:n.742-42C>T
ENST00000204679.8:c.742-42C>T	ENSP00000204679.4:n.742-42C>T
ENST00000527076.1:n.1965-42C>T
ENST00000527168.5:n.909-42C>T
ENST00000529957.5:n.841-42C>T
NM_032520.4:c.742-42C>T	NP_115909.1:n.742-42C>T
XM_017023782.1:c.790-42C>T	XP_016879271.1:n.790-42C>T
XM_017023783.1:c.382-42C>T	XP_016879272.1:n.382-42C>T
NM_032520.5:c.742-42C>T MANE Select	NP_115909.1:n.742-42C>T