Canonical Allele Identifier: CA6746692
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101770161T>C
GRCh37 chr12:g.102163939T>C
Revel Score:
ENST00000299314 (MANE Select) 0.919
ENST00000549940 0.919
gnomAD v2:
12:102163939 T / C
gnomAD v4:
chr12-101770161-T-C
Joint Max Group AF 0.00007506 (SAS)
Exomes Max Group AF 0.00007997 (SAS)
ClinVar RCV:
RCV002785624
RCV003331392
ClinVar Variation:
1982833
dbSNP:
112543062
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770161T>C , CM000674.2:g.101770161T>C GRCh38
NC_000012.11:g.102163939T>C , CM000674.1:g.102163939T>C GRCh37
NC_000012.10:g.100688070T>C NCBI36
NG_021243.1:g.65707A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1144A>G MANE Select ENSP00000299314.7:p.Thr382Ala
ENST00000299314.11:c.1144A>G ENSP00000299314.7:p.Thr382Ala
ENST00000549940.5:c.1144A>G ENSP00000449150.1:p.Thr382Ala
NM_024312.4:c.1144A>G NP_077288.2:p.Thr382Ala
XM_006719593.2:c.1144A>G XP_006719656.1:p.Thr382Ala
XM_011538731.1:c.1063A>G XP_011537033.1:p.Thr355Ala
XM_006719593.3:c.1144A>G XP_006719656.1:p.Thr382Ala
XM_011538731.2:c.1063A>G XP_011537033.1:p.Thr355Ala
XM_017019961.1:c.928A>G XP_016875450.1:p.Thr310Ala
XM_017019962.2:c.-84A>G XP_016875451.1:n.-84A>G
NM_024312.5:c.1144A>G MANE Select NP_077288.2:p.Thr382Ala
Search 100 bp 5'
Search 100 bp 3'