Canonical Allele Identifier: CA2058950528
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753364G= , CM000674.2:g.101753364G= GRCh38
NC_000012.11:g.102147142G= , CM000674.1:g.102147142G= GRCh37
NC_000012.10:g.100671273G= NCBI36
NG_021243.1:g.82504C=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+8C= MANE Select ENSP00000299314.7:n.3602+8C=
ENST00000299314.11:c.3602+8C= ENSP00000299314.7:n.3602+8C=
ENST00000549738.5:c.500+8C= ENSP00000450161.1:n.500+8C=
NM_024312.4:c.3602+8C= NP_077288.2:n.3602+8C=
XM_011538731.1:c.3521+8C= XP_011537033.1:n.3521+8C=
XM_011538731.2:c.3521+8C= XP_011537033.1:n.3521+8C=
XM_017019961.1:c.3386+8C= XP_016875450.1:n.3386+8C=
XM_017019962.2:c.2375+8C= XP_016875451.1:n.2375+8C=
NM_024312.5:c.3602+8C= MANE Select NP_077288.2:n.3602+8C=
Search 100 bp 5'
Search 100 bp 3'