Canonical Allele Identifier: CA343407
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101830632G>T
GRCh37 chr12:g.102224410G>T
Revel Score:
ENST00000299314 (MANE Select) 0.693
ENST00000549940 0.693
ENST00000547090 0.693
ENST00000392919 0.693
ENST00000549165 0.693
gnomAD v2:
12:102224410 G / T
gnomAD v4:
chr12-101830632-G-T
Joint Max Group AF 0.00001534 (NFE)
Exomes Max Group AF 0.00001628 (NFE)
ClinVar RCV:
RCV000032348
RCV003764648
ClinVar Variation:
39081
dbSNP:
281864947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830632G>T , CM000674.2:g.101830632G>T GRCh38
NC_000012.11:g.102224410G>T , CM000674.1:g.102224410G>T GRCh37
NC_000012.10:g.100748541G>T NCBI36
NG_021243.1:g.5236C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.44C>A MANE Select ENSP00000299314.7:p.Ser15Tyr
ENST00000647144.1:n.32C>A
ENST00000299314.11:c.44C>A ENSP00000299314.7:p.Ser15Tyr
ENST00000392919.4:c.44C>A ENSP00000376651.4:p.Ser15Tyr
ENST00000549165.1:c.44C>A ENSP00000450413.1:p.Ser15Tyr
ENST00000549940.5:c.44C>A ENSP00000449150.1:p.Ser15Tyr
NM_024312.4:c.44C>A NP_077288.2:p.Ser15Tyr
XM_006719593.2:c.44C>A XP_006719656.1:p.Ser15Tyr
XM_006719593.3:c.44C>A XP_006719656.1:p.Ser15Tyr
XM_017019961.1:c.-106C>A XP_016875450.1:n.-106C>A
XM_017019962.2:c.-1307C>A XP_016875451.1:n.-1307C>A
NM_024312.5:c.44C>A MANE Select NP_077288.2:p.Ser15Tyr
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