Canonical Allele Identifier: CA242462485
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 727709
ClinVar RCV Id: RCV000902086 RCV004531029
dbSNP Id: rs908316825
gnomAD v2: 12-102164211-A-G
gnomAD v3: 12-101770433-A-G
gnomAD v4: 12-101770433-A-G
MyVariant Identifiers: chr12:g.102164211A>G (hg19) chr12:g.101770433A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770433A>G , CM000674.2:g.101770433A>G GRCh38
NC_000012.11:g.102164211A>G , CM000674.1:g.102164211A>G GRCh37
NC_000012.10:g.100688342A>G NCBI36
NG_021243.1:g.65435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1086T>C MANE Select ENSP00000299314.7:p.Asn362=
ENST00000299314.11:c.1086T>C ENSP00000299314.7:p.Asn362=
ENST00000549940.5:c.1086T>C ENSP00000449150.1:p.Asn362=
NM_024312.4:c.1086T>C NP_077288.2:p.Asn362=
XM_006719593.2:c.1086T>C XP_006719656.1:p.Asn362=
XM_011538731.1:c.1005T>C XP_011537033.1:p.Asn335=
XM_006719593.3:c.1086T>C XP_006719656.1:p.Asn362=
XM_011538731.2:c.1005T>C XP_011537033.1:p.Asn335=
XM_017019961.1:c.870T>C XP_016875450.1:p.Asn290=
XM_017019962.2:c.-142T>C XP_016875451.1:n.-142T>C
NM_024312.5:c.1086T>C MANE Select NP_077288.2:p.Asn362=
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