Canonical Allele Identifier: CA481576968
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1142803
ClinVar RCV Id: RCV001480722
dbSNP Id: rs1409337079
gnomAD v2: 12-102158664-C-T
gnomAD v4: 12-101764886-C-T
MyVariant Identifiers: chr12:g.102158664C>T (hg19) chr12:g.101764886C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764886C>T , CM000674.2:g.101764886C>T GRCh38
NC_000012.11:g.102158664C>T , CM000674.1:g.102158664C>T GRCh37
NC_000012.10:g.100682795C>T NCBI36
NG_021243.1:g.70982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2031G>A MANE Select ENSP00000299314.7:p.Lys677=
ENST00000299314.11:c.2031G>A ENSP00000299314.7:p.Lys677=
NM_024312.4:c.2031G>A NP_077288.2:p.Lys677=
XM_006719593.2:c.2031G>A XP_006719656.1:p.Lys677=
XM_011538731.1:c.1950G>A XP_011537033.1:p.Lys650=
XM_006719593.3:c.2031G>A XP_006719656.1:p.Lys677=
XM_011538731.2:c.1950G>A XP_011537033.1:p.Lys650=
XM_017019961.1:c.1815G>A XP_016875450.1:p.Lys605=
XM_017019962.2:c.804G>A XP_016875451.1:p.Lys268=
NM_024312.5:c.2031G>A MANE Select NP_077288.2:p.Lys677=
Search 100 bp 5'
Search 100 bp 3'