Canonical Allele Identifier: CA2630960281

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362338-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362338A>C , CM000678.2:g.1362338A>C	GRCh38
NC_000016.9:g.1412339A>C , CM000678.1:g.1412339A>C	GRCh37
NC_000016.8:g.1352340A>C	NCBI36
NG_016985.1:g.15440A>C
NG_033129.1:g.57367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+18A>C
ENST00000529110.2:c.610+18A>C	ENSP00000435349.2:n.610+18A>C
ENST00000529957.6:n.584+18A>C
ENST00000683366.1:c.*258+18A>C	ENSP00000507283.1:n.*258+18A>C
ENST00000683887.1:c.574+18A>C	ENSP00000506886.1:n.574+18A>C
ENST00000684100.1:n.520+18A>C
ENST00000684126.1:n.584+18A>C
ENST00000684688.1:n.1151+18A>C
ENST00000204679.9:c.526+18A>C MANE Select	ENSP00000204679.4:n.526+18A>C
ENST00000204679.8:c.526+18A>C	ENSP00000204679.4:n.526+18A>C
ENST00000527076.1:n.1560A>C
ENST00000527168.5:n.580A>C
ENST00000529957.5:n.625+18A>C
NM_032520.4:c.526+18A>C	NP_115909.1:n.526+18A>C
XM_017023782.1:c.574+18A>C	XP_016879271.1:n.574+18A>C
XM_017023783.1:c.166+18A>C	XP_016879272.1:n.166+18A>C
NM_032520.5:c.526+18A>C MANE Select	NP_115909.1:n.526+18A>C