Canonical Allele Identifier: CA2201615353

Gene: GNPTG

Linked Data

• dbSNP Id: rs371060844

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362748G>C , CM000678.2:g.1362748G>C	GRCh38
NC_000016.9:g.1412749G>C , CM000678.1:g.1412749G>C	GRCh37
NC_000016.8:g.1352750G>C	NCBI36
NG_016985.1:g.15850G>C
NG_033129.1:g.56957C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+6G>C
ENST00000529110.2:c.825+6G>C	ENSP00000435349.2:n.825+6G>C
ENST00000529957.6:n.799+6G>C
ENST00000683366.1:c.*473+6G>C	ENSP00000507283.1:n.*473+6G>C
ENST00000683887.1:c.789+6G>C	ENSP00000506886.1:n.789+6G>C
ENST00000684100.1:n.735+6G>C
ENST00000684126.1:n.875+6G>C
ENST00000684688.1:n.1366+6G>C
ENST00000204679.9:c.741+6G>C MANE Select	ENSP00000204679.4:n.741+6G>C
ENST00000204679.8:c.741+6G>C	ENSP00000204679.4:n.741+6G>C
ENST00000527076.1:n.1964+6G>C
ENST00000527168.5:n.908+6G>C
ENST00000529957.5:n.840+6G>C
NM_032520.4:c.741+6G>C	NP_115909.1:n.741+6G>C
XM_017023782.1:c.789+6G>C	XP_016879271.1:n.789+6G>C
XM_017023783.1:c.381+6G>C	XP_016879272.1:n.381+6G>C
NM_032520.5:c.741+6G>C MANE Select	NP_115909.1:n.741+6G>C