Canonical Allele Identifier: CA493026735
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412885C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362884C>G , CM000678.2:g.1362884C>G GRCh38
NC_000016.9:g.1412885C>G , CM000678.1:g.1412885C>G GRCh37
NC_000016.8:g.1352886C>G NCBI36
NG_016985.1:g.15986C>G
NG_033129.1:g.56821G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.900C>G
ENST00000529110.2:c.885C>G ENSP00000435349.2:p.Gly295=
ENST00000529957.6:n.859C>G
ENST00000683366.1:c.*533C>G ENSP00000507283.1:n.*533C>G
ENST00000683887.1:c.849C>G ENSP00000506886.1:p.Gly283=
ENST00000684100.1:n.795C>G
ENST00000684126.1:n.935C>G
ENST00000684688.1:n.1426C>G
ENST00000204679.9:c.801C>G MANE Select ENSP00000204679.4:p.Gly267=
ENST00000204679.8:c.801C>G ENSP00000204679.4:p.Gly267=
ENST00000527076.1:n.2024C>G
ENST00000527168.5:n.968C>G
ENST00000529957.5:n.900C>G
NM_032520.4:c.801C>G NP_115909.1:p.Gly267=
XM_017023782.1:c.849C>G XP_016879271.1:p.Gly283=
XM_017023783.1:c.441C>G XP_016879272.1:p.Gly147=
NM_032520.5:c.801C>G MANE Select NP_115909.1:p.Gly267=