Canonical Allele Identifier: CA386303368
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770570C>T , CM000674.2:g.101770570C>T GRCh38
NC_000012.11:g.102164348C>T , CM000674.1:g.102164348C>T GRCh37
NC_000012.10:g.100688479C>T NCBI36
NG_021243.1:g.65298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.949G>A MANE Select ENSP00000299314.7:p.Asp317Asn
ENST00000299314.11:c.949G>A ENSP00000299314.7:p.Asp317Asn
ENST00000549940.5:c.949G>A ENSP00000449150.1:p.Asp317Asn
NM_024312.4:c.949G>A NP_077288.2:p.Asp317Asn
XM_006719593.2:c.949G>A XP_006719656.1:p.Asp317Asn
XM_011538731.1:c.868G>A XP_011537033.1:p.Asp290Asn
XM_006719593.3:c.949G>A XP_006719656.1:p.Asp317Asn
XM_011538731.2:c.868G>A XP_011537033.1:p.Asp290Asn
XM_017019961.1:c.733G>A XP_016875450.1:p.Asp245Asn
XM_017019962.2:c.-279G>A XP_016875451.1:n.-279G>A
NM_024312.5:c.949G>A MANE Select NP_077288.2:p.Asp317Asn