Canonical Allele Identifier: CA493026367
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1411772C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361771C>G , CM000678.2:g.1361771C>G GRCh38
NC_000016.9:g.1411772C>G , CM000678.1:g.1411772C>G GRCh37
NC_000016.8:g.1351773C>G NCBI36
NG_016985.1:g.14873C>G
NG_033129.1:g.57934G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.306C>G
ENST00000529110.2:c.291C>G ENSP00000435349.2:p.Gly97=
ENST00000529957.6:n.265C>G
ENST00000683366.1:c.179-101C>G ENSP00000507283.1:n.179-101C>G
ENST00000683887.1:c.255C>G ENSP00000506886.1:p.Gly85=
ENST00000684100.1:n.127C>G
ENST00000684126.1:n.265C>G
ENST00000684688.1:n.832C>G
ENST00000204679.9:c.207C>G MANE Select ENSP00000204679.4:p.Gly69=
ENST00000204679.8:c.207C>G ENSP00000204679.4:p.Gly69=
ENST00000526820.5:c.*109C>G ENSP00000434413.1:n.*109C>G
ENST00000527076.1:n.1149C>G
ENST00000527168.5:n.270-101C>G
ENST00000529110.1:c.274C>G
ENST00000529957.5:n.306C>G
NM_032520.4:c.207C>G NP_115909.1:p.Gly69=
XM_017023782.1:c.255C>G XP_016879271.1:p.Gly85=
XM_017023783.1:c.-154C>G XP_016879272.1:n.-154C>G
NM_032520.5:c.207C>G MANE Select NP_115909.1:p.Gly69=