Canonical Allele Identifier: CA2620425924
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101753322-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753322C>T , CM000674.2:g.101753322C>T GRCh38
NC_000012.11:g.102147100C>T , CM000674.1:g.102147100C>T GRCh37
NC_000012.10:g.100671231C>T NCBI36
NG_021243.1:g.82546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+50G>A MANE Select ENSP00000299314.7:n.3602+50G>A
ENST00000299314.11:c.3602+50G>A ENSP00000299314.7:n.3602+50G>A
ENST00000549738.5:c.500+50G>A ENSP00000450161.1:n.500+50G>A
NM_024312.4:c.3602+50G>A NP_077288.2:n.3602+50G>A
XM_011538731.1:c.3521+50G>A XP_011537033.1:n.3521+50G>A
XM_011538731.2:c.3521+50G>A XP_011537033.1:n.3521+50G>A
XM_017019961.1:c.3386+50G>A XP_016875450.1:n.3386+50G>A
XM_017019962.2:c.2375+50G>A XP_016875451.1:n.2375+50G>A
NM_024312.5:c.3602+50G>A MANE Select NP_077288.2:n.3602+50G>A
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