Canonical Allele Identifier: CA2620450777
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830817-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830817C>T , CM000674.2:g.101830817C>T GRCh38
NC_000012.11:g.102224595C>T , CM000674.1:g.102224595C>T GRCh37
NC_000012.10:g.100748726C>T NCBI36
NG_021243.1:g.5051G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-142G>A MANE Select ENSP00000299314.7:n.-142G>A
ENST00000299314.11:c.-142G>A ENSP00000299314.7:n.-142G>A
ENST00000392919.4:c.-142G>A ENSP00000376651.4:n.-142G>A
ENST00000549940.5:c.-142G>A ENSP00000449150.1:n.-142G>A
NM_024312.4:c.-142G>A NP_077288.2:n.-142G>A
XM_006719593.2:c.-142G>A XP_006719656.1:n.-142G>A
XM_006719593.3:c.-142G>A XP_006719656.1:n.-142G>A
XM_017019961.1:c.-291G>A XP_016875450.1:n.-291G>A
XM_017019962.2:c.-1492G>A XP_016875451.1:n.-1492G>A
NM_024312.5:c.-142G>A MANE Select NP_077288.2:n.-142G>A
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