Canonical Allele Identifier: CA951190923
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871336622
gnomAD v3: 12-101830794-C-T
gnomAD v4: 12-101830794-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830794C>T , CM000674.2:g.101830794C>T GRCh38
NC_000012.11:g.102224572C>T , CM000674.1:g.102224572C>T GRCh37
NC_000012.10:g.100748703C>T NCBI36
NG_021243.1:g.5074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-119G>A MANE Select ENSP00000299314.7:n.-119G>A
ENST00000299314.11:c.-119G>A ENSP00000299314.7:n.-119G>A
ENST00000392919.4:c.-119G>A ENSP00000376651.4:n.-119G>A
ENST00000549940.5:c.-119G>A ENSP00000449150.1:n.-119G>A
NM_024312.4:c.-119G>A NP_077288.2:n.-119G>A
XM_006719593.2:c.-119G>A XP_006719656.1:n.-119G>A
XM_006719593.3:c.-119G>A XP_006719656.1:n.-119G>A
XM_017019961.1:c.-268G>A XP_016875450.1:n.-268G>A
XM_017019962.2:c.-1469G>A XP_016875451.1:n.-1469G>A
NM_024312.5:c.-119G>A MANE Select NP_077288.2:n.-119G>A
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