Canonical Allele Identifier: CA343331
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101770518C>T
GRCh37 chr12:g.102164296C>T
Revel Score:
ENST00000299314 (MANE Select) 0.892
ENST00000549940 0.892
gnomAD v2:
12:102164296 C / T
gnomAD v3:
12:101770518 C / T
gnomAD v4:
chr12-101770518-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000032283
RCV001852647
ClinVar Variation:
39018
dbSNP:
281864970
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770518C>T , CM000674.2:g.101770518C>T GRCh38
NC_000012.11:g.102164296C>T , CM000674.1:g.102164296C>T GRCh37
NC_000012.10:g.100688427C>T NCBI36
NG_021243.1:g.65350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1001G>A MANE Select ENSP00000299314.7:p.Arg334Gln
ENST00000299314.11:c.1001G>A ENSP00000299314.7:p.Arg334Gln
ENST00000549940.5:c.1001G>A ENSP00000449150.1:p.Arg334Gln
NM_024312.4:c.1001G>A NP_077288.2:p.Arg334Gln
XM_006719593.2:c.1001G>A XP_006719656.1:p.Arg334Gln
XM_011538731.1:c.920G>A XP_011537033.1:p.Arg307Gln
XM_006719593.3:c.1001G>A XP_006719656.1:p.Arg334Gln
XM_011538731.2:c.920G>A XP_011537033.1:p.Arg307Gln
XM_017019961.1:c.785G>A XP_016875450.1:p.Arg262Gln
XM_017019962.2:c.-227G>A XP_016875451.1:n.-227G>A
NM_024312.5:c.1001G>A MANE Select NP_077288.2:p.Arg334Gln
Search 100 bp 5'
Search 100 bp 3'