Canonical Allele Identifier: CA2058950509
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753328T= , CM000674.2:g.101753328T= GRCh38
NC_000012.11:g.102147106T= , CM000674.1:g.102147106T= GRCh37
NC_000012.10:g.100671237T= NCBI36
NG_021243.1:g.82540A=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+44A= MANE Select ENSP00000299314.7:n.3602+44A=
ENST00000299314.11:c.3602+44A= ENSP00000299314.7:n.3602+44A=
ENST00000549738.5:c.500+44A= ENSP00000450161.1:n.500+44A=
NM_024312.4:c.3602+44A= NP_077288.2:n.3602+44A=
XM_011538731.1:c.3521+44A= XP_011537033.1:n.3521+44A=
XM_011538731.2:c.3521+44A= XP_011537033.1:n.3521+44A=
XM_017019961.1:c.3386+44A= XP_016875450.1:n.3386+44A=
XM_017019962.2:c.2375+44A= XP_016875451.1:n.2375+44A=
NM_024312.5:c.3602+44A= MANE Select NP_077288.2:n.3602+44A=
Search 100 bp 5'
Search 100 bp 3'