Canonical Allele Identifier: CA493026747
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412903C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362902C>G , CM000678.2:g.1362902C>G GRCh38
NC_000016.9:g.1412903C>G , CM000678.1:g.1412903C>G GRCh37
NC_000016.8:g.1352904C>G NCBI36
NG_016985.1:g.16004C>G
NG_033129.1:g.56803G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.918C>G
ENST00000529110.2:c.903C>G ENSP00000435349.2:p.Pro301=
ENST00000529957.6:n.877C>G
ENST00000683366.1:c.*551C>G ENSP00000507283.1:n.*551C>G
ENST00000683887.1:c.867C>G ENSP00000506886.1:p.Pro289=
ENST00000684100.1:n.813C>G
ENST00000684126.1:n.953C>G
ENST00000684688.1:n.1444C>G
ENST00000204679.9:c.819C>G MANE Select ENSP00000204679.4:p.Pro273=
ENST00000204679.8:c.819C>G ENSP00000204679.4:p.Pro273=
ENST00000527076.1:n.2042C>G
ENST00000527168.5:n.986C>G
ENST00000529957.5:n.918C>G
NM_032520.4:c.819C>G NP_115909.1:p.Pro273=
XM_017023782.1:c.867C>G XP_016879271.1:p.Pro289=
XM_017023783.1:c.459C>G XP_016879272.1:p.Pro153=
NM_032520.5:c.819C>G MANE Select NP_115909.1:p.Pro273=