Canonical Allele Identifier: CA6746338
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1306188
ClinVar RCV Id: RCV001767141
dbSNP Id: rs777346722
ExAC: 12:102155405 C / T
gnomAD v2: 12-102155405-C-T
gnomAD v4: 12-101761627-C-T
COSMIC: COSM4687503
MyVariant Identifiers: chr12:g.102155405C>T (hg19) chr12:g.101761627C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761627C>T , CM000674.2:g.101761627C>T GRCh38
NC_000012.11:g.102155405C>T , CM000674.1:g.102155405C>T GRCh37
NC_000012.10:g.100679536C>T NCBI36
NG_021243.1:g.74241G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2852G>A MANE Select ENSP00000299314.7:p.Arg951Gln
ENST00000299314.11:c.2852G>A ENSP00000299314.7:p.Arg951Gln
NM_024312.4:c.2852G>A NP_077288.2:p.Arg951Gln
XM_006719593.2:c.2852G>A XP_006719656.1:p.Arg951Gln
XM_011538731.1:c.2771G>A XP_011537033.1:p.Arg924Gln
XM_006719593.3:c.2852G>A XP_006719656.1:p.Arg951Gln
XM_011538731.2:c.2771G>A XP_011537033.1:p.Arg924Gln
XM_017019961.1:c.2636G>A XP_016875450.1:p.Arg879Gln
XM_017019962.2:c.1625G>A XP_016875451.1:p.Arg542Gln
NM_024312.5:c.2852G>A MANE Select NP_077288.2:p.Arg951Gln
Search 100 bp 5'
Search 100 bp 3'