Canonical Allele Identifier: CA10576341
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 226419
ClinVar RCV Id: RCV000211681 RCV000671022 RCV001171546
dbSNP Id: rs875989952
gnomAD v4: 12-101757659-T-C
MyVariant Identifiers: chr12:g.102151437T>C (hg19) chr12:g.101757659T>C (hg38)
PubMed: PMID:27180337
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101757659T>C , CM000674.2:g.101757659T>C GRCh38
NC_000012.11:g.102151437T>C , CM000674.1:g.102151437T>C GRCh37
NC_000012.10:g.100675568T>C NCBI36
NG_021243.1:g.78209A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3250-2A>G MANE Select ENSP00000299314.7:n.3250-2A>G
ENST00000299314.11:c.3250-2A>G ENSP00000299314.7:n.3250-2A>G
ENST00000549194.1:n.116-2A>G
ENST00000550718.1:c.62-2A>G
NM_024312.4:c.3250-2A>G NP_077288.2:n.3250-2A>G
XM_006719593.2:c.3250-2A>G XP_006719656.1:n.3250-2A>G
XM_011538731.1:c.3169-2A>G XP_011537033.1:n.3169-2A>G
XM_006719593.3:c.3250-2A>G XP_006719656.1:n.3250-2A>G
XM_011538731.2:c.3169-2A>G XP_011537033.1:n.3169-2A>G
XM_017019961.1:c.3034-2A>G XP_016875450.1:n.3034-2A>G
XM_017019962.2:c.2023-2A>G XP_016875451.1:n.2023-2A>G
NM_024312.5:c.3250-2A>G MANE Select NP_077288.2:n.3250-2A>G
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