Canonical Allele Identifier: CA2620425883
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101753300-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753300C>A , CM000674.2:g.101753300C>A GRCh38
NC_000012.11:g.102147078C>A , CM000674.1:g.102147078C>A GRCh37
NC_000012.10:g.100671209C>A NCBI36
NG_021243.1:g.82568G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+72G>T MANE Select ENSP00000299314.7:n.3602+72G>T
ENST00000299314.11:c.3602+72G>T ENSP00000299314.7:n.3602+72G>T
ENST00000549738.5:c.500+72G>T ENSP00000450161.1:n.500+72G>T
NM_024312.4:c.3602+72G>T NP_077288.2:n.3602+72G>T
XM_011538731.1:c.3521+72G>T XP_011537033.1:n.3521+72G>T
XM_011538731.2:c.3521+72G>T XP_011537033.1:n.3521+72G>T
XM_017019961.1:c.3386+72G>T XP_016875450.1:n.3386+72G>T
XM_017019962.2:c.2375+72G>T XP_016875451.1:n.2375+72G>T
NM_024312.5:c.3602+72G>T MANE Select NP_077288.2:n.3602+72G>T
Search 100 bp 5'
Search 100 bp 3'