Canonical Allele Identifier: CA2058985292
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830828G= , CM000674.2:g.101830828G= GRCh38
NC_000012.11:g.102224606G= , CM000674.1:g.102224606G= GRCh37
NC_000012.10:g.100748737G= NCBI36
NG_021243.1:g.5040C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-153C= MANE Select ENSP00000299314.7:n.-153C=
ENST00000299314.11:c.-153C= ENSP00000299314.7:n.-153C=
ENST00000392919.4:c.-153C= ENSP00000376651.4:n.-153C=
NM_024312.4:c.-153C= NP_077288.2:n.-153C=
XM_006719593.2:c.-153C= XP_006719656.1:n.-153C=
XM_017019961.1:c.-302C= XP_016875450.1:n.-302C=
NM_024312.5:c.-153C= MANE Select NP_077288.2:n.-153C=
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