Canonical Allele Identifier: CA481317562
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1095853
ClinVar RCV Id: RCV001416879
dbSNP Id: rs2137101924
MyVariant Identifiers: chr12:g.102147194T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753416T>C , CM000674.2:g.101753416T>C GRCh38
NC_000012.11:g.102147194T>C , CM000674.1:g.102147194T>C GRCh37
NC_000012.10:g.100671325T>C NCBI36
NG_021243.1:g.82452A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3558A>G MANE Select ENSP00000299314.7:p.Arg1186=
ENST00000299314.11:c.3558A>G ENSP00000299314.7:p.Arg1186=
ENST00000549738.5:c.456A>G ENSP00000450161.1:n.456A>G
NM_024312.4:c.3558A>G NP_077288.2:p.Arg1186=
XM_011538731.1:c.3477A>G XP_011537033.1:p.Arg1159=
XM_011538731.2:c.3477A>G XP_011537033.1:p.Arg1159=
XM_017019961.1:c.3342A>G XP_016875450.1:p.Arg1114=
XM_017019962.2:c.2331A>G XP_016875451.1:p.Arg777=
NM_024312.5:c.3558A>G MANE Select NP_077288.2:p.Arg1186=
Search 100 bp 5'
Search 100 bp 3'