Canonical Allele Identifier: CA6746112
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1108279
ClinVar RCV Id: RCV001433733
dbSNP Id: rs187120606
ExAC: 12:102147140 G / A
gnomAD v2: 12-102147140-G-A
gnomAD v4: 12-101753362-G-A
MyVariant Identifiers: chr12:g.102147140G>A (hg19) chr12:g.101753362G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753362G>A , CM000674.2:g.101753362G>A GRCh38
NC_000012.11:g.102147140G>A , CM000674.1:g.102147140G>A GRCh37
NC_000012.10:g.100671271G>A NCBI36
NG_021243.1:g.82506C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+10C>T MANE Select ENSP00000299314.7:n.3602+10C>T
ENST00000299314.11:c.3602+10C>T ENSP00000299314.7:n.3602+10C>T
ENST00000549738.5:c.500+10C>T ENSP00000450161.1:n.500+10C>T
NM_024312.4:c.3602+10C>T NP_077288.2:n.3602+10C>T
XM_011538731.1:c.3521+10C>T XP_011537033.1:n.3521+10C>T
XM_011538731.2:c.3521+10C>T XP_011537033.1:n.3521+10C>T
XM_017019961.1:c.3386+10C>T XP_016875450.1:n.3386+10C>T
XM_017019962.2:c.2375+10C>T XP_016875451.1:n.2375+10C>T
NM_024312.5:c.3602+10C>T MANE Select NP_077288.2:n.3602+10C>T
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