Canonical Allele Identifier: CA386304898
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786074A>C , CM000674.2:g.101786074A>C GRCh38
NC_000012.11:g.102179852A>C , CM000674.1:g.102179852A>C GRCh37
NC_000012.10:g.100703983A>C NCBI36
NG_021243.1:g.49794T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.509T>G MANE Select ENSP00000299314.7:p.Val170Gly
ENST00000299314.11:c.509T>G ENSP00000299314.7:p.Val170Gly
ENST00000549940.5:c.509T>G ENSP00000449150.1:p.Val170Gly
ENST00000550352.1:n.303T>G
ENST00000552681.1:c.143T>G ENSP00000449217.1:p.Val48Gly
NM_024312.4:c.509T>G NP_077288.2:p.Val170Gly
XM_006719593.2:c.509T>G XP_006719656.1:p.Val170Gly
XM_011538731.1:c.428T>G XP_011537033.1:p.Val143Gly
XM_006719593.3:c.509T>G XP_006719656.1:p.Val170Gly
XM_011538731.2:c.428T>G XP_011537033.1:p.Val143Gly
XM_017019961.1:c.293T>G XP_016875450.1:p.Val98Gly
XM_017019962.2:c.-842T>G XP_016875451.1:n.-842T>G
NM_024312.5:c.509T>G MANE Select NP_077288.2:p.Val170Gly