Canonical Allele Identifier: CA180093
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 167154
ClinVar RCV Id: RCV000153336 RCV000370871 RCV000402910 RCV000549250 RCV000675298
dbSNP Id: rs222504
ExAC: 12:102224427 C / T
gnomAD v2: 12-102224427-C-T
gnomAD v3: 12-101830649-C-T
gnomAD v4: 12-101830649-C-T
MyVariant Identifiers: chr12:g.102224427C>T (hg19) chr12:g.101830649C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830649C>T , CM000674.2:g.101830649C>T GRCh38
NC_000012.11:g.102224427C>T , CM000674.1:g.102224427C>T GRCh37
NC_000012.10:g.100748558C>T NCBI36
NG_021243.1:g.5219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.27G>A MANE Select ENSP00000299314.7:p.Gln9=
ENST00000647144.1:n.15G>A
ENST00000299314.11:c.27G>A ENSP00000299314.7:p.Gln9=
ENST00000392919.4:c.27G>A ENSP00000376651.4:p.Gln9=
ENST00000549165.1:c.27G>A ENSP00000450413.1:p.Gln9=
ENST00000549940.5:c.27G>A ENSP00000449150.1:p.Gln9=
NM_024312.4:c.27G>A NP_077288.2:p.Gln9=
XM_006719593.2:c.27G>A XP_006719656.1:p.Gln9=
XM_006719593.3:c.27G>A XP_006719656.1:p.Gln9=
XM_017019961.1:c.-123G>A XP_016875450.1:n.-123G>A
XM_017019962.2:c.-1324G>A XP_016875451.1:n.-1324G>A
NM_024312.5:c.27G>A MANE Select NP_077288.2:p.Gln9=
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