Canonical Allele Identifier: CA7807842

Gene: GNPTG

Linked Data

• dbSNP Id: rs774852659
• ExAC: 16:1412564 T / G
• gnomAD v2: 16-1412564-T-G
• gnomAD v4: 16-1362563-T-G
• MyVariant Identifiers: chr16:g.1412564T>G (hg19) ; chr16:g.1362563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362563T>G , CM000678.2:g.1362563T>G	GRCh38
NC_000016.9:g.1412564T>G , CM000678.1:g.1412564T>G	GRCh37
NC_000016.8:g.1352565T>G	NCBI36
NG_016985.1:g.15665T>G
NG_033129.1:g.57142A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+29T>G
ENST00000529110.2:c.693+29T>G	ENSP00000435349.2:n.693+29T>G
ENST00000529957.6:n.667+29T>G
ENST00000683366.1:c.*341+29T>G	ENSP00000507283.1:n.*341+29T>G
ENST00000683887.1:c.657+29T>G	ENSP00000506886.1:n.657+29T>G
ENST00000684100.1:n.603+29T>G
ENST00000684126.1:n.696T>G
ENST00000684688.1:n.1234+29T>G
ENST00000204679.9:c.609+29T>G MANE Select	ENSP00000204679.4:n.609+29T>G
ENST00000204679.8:c.609+29T>G	ENSP00000204679.4:n.609+29T>G
ENST00000527076.1:n.1785T>G
ENST00000527168.5:n.776+29T>G
ENST00000529957.5:n.708+29T>G
NM_032520.4:c.609+29T>G	NP_115909.1:n.609+29T>G
XM_017023782.1:c.657+29T>G	XP_016879271.1:n.657+29T>G
XM_017023783.1:c.249+29T>G	XP_016879272.1:n.249+29T>G
NM_032520.5:c.609+29T>G MANE Select	NP_115909.1:n.609+29T>G