Canonical Allele Identifier: CA620700238

Gene: GNPTG

Linked Data

• dbSNP Id: rs1200636610
• gnomAD v2: 16-1412789-C-G
• gnomAD v4: 16-1362788-C-G
• MyVariant Identifiers: chr16:g.1412789C>G (hg19) ; chr16:g.1362788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362788C>G , CM000678.2:g.1362788C>G	GRCh38
NC_000016.9:g.1412789C>G , CM000678.1:g.1412789C>G	GRCh37
NC_000016.8:g.1352790C>G	NCBI36
NG_016985.1:g.15890C>G
NG_033129.1:g.56917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-37C>G
ENST00000529110.2:c.826-37C>G	ENSP00000435349.2:n.826-37C>G
ENST00000529957.6:n.800-37C>G
ENST00000683366.1:c.*474-37C>G	ENSP00000507283.1:n.*474-37C>G
ENST00000683887.1:c.790-37C>G	ENSP00000506886.1:n.790-37C>G
ENST00000684100.1:n.736-37C>G
ENST00000684126.1:n.876-37C>G
ENST00000684688.1:n.1367-37C>G
ENST00000204679.9:c.742-37C>G MANE Select	ENSP00000204679.4:n.742-37C>G
ENST00000204679.8:c.742-37C>G	ENSP00000204679.4:n.742-37C>G
ENST00000527076.1:n.1965-37C>G
ENST00000527168.5:n.909-37C>G
ENST00000529957.5:n.841-37C>G
NM_032520.4:c.742-37C>G	NP_115909.1:n.742-37C>G
XM_017023782.1:c.790-37C>G	XP_016879271.1:n.790-37C>G
XM_017023783.1:c.382-37C>G	XP_016879272.1:n.382-37C>G
NM_032520.5:c.742-37C>G MANE Select	NP_115909.1:n.742-37C>G