Canonical Allele Identifier: CA2620425928
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101753329-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753329A>T , CM000674.2:g.101753329A>T GRCh38
NC_000012.11:g.102147107A>T , CM000674.1:g.102147107A>T GRCh37
NC_000012.10:g.100671238A>T NCBI36
NG_021243.1:g.82539T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+43T>A MANE Select ENSP00000299314.7:n.3602+43T>A
ENST00000299314.11:c.3602+43T>A ENSP00000299314.7:n.3602+43T>A
ENST00000549738.5:c.500+43T>A ENSP00000450161.1:n.500+43T>A
NM_024312.4:c.3602+43T>A NP_077288.2:n.3602+43T>A
XM_011538731.1:c.3521+43T>A XP_011537033.1:n.3521+43T>A
XM_011538731.2:c.3521+43T>A XP_011537033.1:n.3521+43T>A
XM_017019961.1:c.3386+43T>A XP_016875450.1:n.3386+43T>A
XM_017019962.2:c.2375+43T>A XP_016875451.1:n.2375+43T>A
NM_024312.5:c.3602+43T>A MANE Select NP_077288.2:n.3602+43T>A
Search 100 bp 5'
Search 100 bp 3'