Canonical Allele Identifier: CA2620445498
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101785949-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101785949G>T , CM000674.2:g.101785949G>T GRCh38
NC_000012.11:g.102179727G>T , CM000674.1:g.102179727G>T GRCh37
NC_000012.10:g.100703858G>T NCBI36
NG_021243.1:g.49919C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.571+63C>A MANE Select ENSP00000299314.7:n.571+63C>A
ENST00000299314.11:c.571+63C>A ENSP00000299314.7:n.571+63C>A
ENST00000549940.5:c.571+63C>A ENSP00000449150.1:n.571+63C>A
ENST00000550352.1:n.428C>A
ENST00000552681.1:c.205+63C>A ENSP00000449217.1:n.205+63C>A
NM_024312.4:c.571+63C>A NP_077288.2:n.571+63C>A
XM_006719593.2:c.571+63C>A XP_006719656.1:n.571+63C>A
XM_011538731.1:c.490+63C>A XP_011537033.1:n.490+63C>A
XM_006719593.3:c.571+63C>A XP_006719656.1:n.571+63C>A
XM_011538731.2:c.490+63C>A XP_011537033.1:n.490+63C>A
XM_017019961.1:c.355+63C>A XP_016875450.1:n.355+63C>A
XM_017019962.2:c.-780+63C>A XP_016875451.1:n.-780+63C>A
NM_024312.5:c.571+63C>A MANE Select NP_077288.2:n.571+63C>A
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