Canonical Allele Identifier: CA2731773228
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs2141863363

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362393C>G , CM000678.2:g.1362393C>G GRCh38
NC_000016.9:g.1412394C>G , CM000678.1:g.1412394C>G GRCh37
NC_000016.8:g.1352395C>G NCBI36
NG_016985.1:g.15495C>G
NG_033129.1:g.57312G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.626-59C>G
ENST00000529110.2:c.611-59C>G ENSP00000435349.2:n.611-59C>G
ENST00000529957.6:n.585-59C>G
ENST00000683366.1:c.*259-59C>G ENSP00000507283.1:n.*259-59C>G
ENST00000683887.1:c.575-59C>G ENSP00000506886.1:n.575-59C>G
ENST00000684100.1:n.521-59C>G
ENST00000684126.1:n.585-59C>G
ENST00000684688.1:n.1152-59C>G
ENST00000204679.9:c.527-59C>G MANE Select ENSP00000204679.4:n.527-59C>G
ENST00000204679.8:c.527-59C>G ENSP00000204679.4:n.527-59C>G
ENST00000527076.1:n.1615C>G
ENST00000527168.5:n.635C>G
ENST00000529957.5:n.626-59C>G
NM_032520.4:c.527-59C>G NP_115909.1:n.527-59C>G
XM_017023782.1:c.575-59C>G XP_016879271.1:n.575-59C>G
XM_017023783.1:c.167-59C>G XP_016879272.1:n.167-59C>G
NM_032520.5:c.527-59C>G MANE Select NP_115909.1:n.527-59C>G