Canonical Allele Identifier: CA2058985233
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830742C= , CM000674.2:g.101830742C= GRCh38
NC_000012.11:g.102224520C= , CM000674.1:g.102224520C= GRCh37
NC_000012.10:g.100748651C= NCBI36
NG_021243.1:g.5126G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-67G= MANE Select ENSP00000299314.7:n.-67G=
ENST00000299314.11:c.-67G= ENSP00000299314.7:n.-67G=
ENST00000392919.4:c.-67G= ENSP00000376651.4:n.-67G=
ENST00000549940.5:c.-67G= ENSP00000449150.1:n.-67G=
NM_024312.4:c.-67G= NP_077288.2:n.-67G=
XM_006719593.2:c.-67G= XP_006719656.1:n.-67G=
XM_006719593.3:c.-67G= XP_006719656.1:n.-67G=
XM_017019961.1:c.-216G= XP_016875450.1:n.-216G=
XM_017019962.2:c.-1417G= XP_016875451.1:n.-1417G=
NM_024312.5:c.-67G= MANE Select NP_077288.2:n.-67G=
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