Canonical Allele Identifier: CA7807623

Gene: GNPTG

Linked Data

• dbSNP Id: rs762664496
• ExAC: 16:1412012 T / C
• gnomAD v2: 16-1412012-T-C
• MyVariant Identifiers: chr16:g.1412012T>C (hg19) ; chr16:g.1362011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362011T>C , CM000678.2:g.1362011T>C	GRCh38
NC_000016.9:g.1412012T>C , CM000678.1:g.1412012T>C	GRCh37
NC_000016.8:g.1352013T>C	NCBI36
NG_016985.1:g.15113T>C
NG_033129.1:g.57694A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-27T>C
ENST00000529110.2:c.402-27T>C	ENSP00000435349.2:n.402-27T>C
ENST00000529957.6:n.376-27T>C
ENST00000683366.1:c.*50-27T>C	ENSP00000507283.1:n.*50-27T>C
ENST00000683887.1:c.366-27T>C	ENSP00000506886.1:n.366-27T>C
ENST00000684100.1:n.312-27T>C
ENST00000684126.1:n.376-27T>C
ENST00000684688.1:n.943-27T>C
ENST00000204679.9:c.318-27T>C MANE Select	ENSP00000204679.4:n.318-27T>C
ENST00000204679.8:c.318-27T>C	ENSP00000204679.4:n.318-27T>C
ENST00000526820.5:c.*220-27T>C	ENSP00000434413.1:n.*220-27T>C
ENST00000527076.1:n.1334-27T>C
ENST00000527168.5:n.354-27T>C
ENST00000529110.1:c.385-27T>C
ENST00000529957.5:n.417-27T>C
NM_032520.4:c.318-27T>C	NP_115909.1:n.318-27T>C
XM_017023782.1:c.366-27T>C	XP_016879271.1:n.366-27T>C
XM_017023783.1:c.-43-27T>C	XP_016879272.1:n.-43-27T>C
NM_032520.5:c.318-27T>C MANE Select	NP_115909.1:n.318-27T>C