Canonical Allele Identifier: CA2630960561

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362410-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362410G>C , CM000678.2:g.1362410G>C	GRCh38
NC_000016.9:g.1412411G>C , CM000678.1:g.1412411G>C	GRCh37
NC_000016.8:g.1352412G>C	NCBI36
NG_016985.1:g.15512G>C
NG_033129.1:g.57295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-42G>C
ENST00000529110.2:c.611-42G>C	ENSP00000435349.2:n.611-42G>C
ENST00000529957.6:n.585-42G>C
ENST00000683366.1:c.*259-42G>C	ENSP00000507283.1:n.*259-42G>C
ENST00000683887.1:c.575-42G>C	ENSP00000506886.1:n.575-42G>C
ENST00000684100.1:n.521-42G>C
ENST00000684126.1:n.585-42G>C
ENST00000684688.1:n.1152-42G>C
ENST00000204679.9:c.527-42G>C MANE Select	ENSP00000204679.4:n.527-42G>C
ENST00000204679.8:c.527-42G>C	ENSP00000204679.4:n.527-42G>C
ENST00000527076.1:n.1632G>C
ENST00000527168.5:n.652G>C
ENST00000529957.5:n.626-42G>C
NM_032520.4:c.527-42G>C	NP_115909.1:n.527-42G>C
XM_017023782.1:c.575-42G>C	XP_016879271.1:n.575-42G>C
XM_017023783.1:c.167-42G>C	XP_016879272.1:n.167-42G>C
NM_032520.5:c.527-42G>C MANE Select	NP_115909.1:n.527-42G>C