Canonical Allele Identifier: CA15728336
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1242057
ClinVar RCV Id: RCV001647907
dbSNP Id: rs11110997
gnomAD v2: 12-102147088-T-C
gnomAD v3: 12-101753310-T-C
gnomAD v4: 12-101753310-T-C
MyVariant Identifiers: chr12:g.102147088T>C (hg19) chr12:g.101753310T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753310T>C , CM000674.2:g.101753310T>C GRCh38
NC_000012.11:g.102147088T>C , CM000674.1:g.102147088T>C GRCh37
NC_000012.10:g.100671219T>C NCBI36
NG_021243.1:g.82558A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+62A>G MANE Select ENSP00000299314.7:n.3602+62A>G
ENST00000299314.11:c.3602+62A>G ENSP00000299314.7:n.3602+62A>G
ENST00000549738.5:c.500+62A>G ENSP00000450161.1:n.500+62A>G
NM_024312.4:c.3602+62A>G NP_077288.2:n.3602+62A>G
XM_011538731.1:c.3521+62A>G XP_011537033.1:n.3521+62A>G
XM_011538731.2:c.3521+62A>G XP_011537033.1:n.3521+62A>G
XM_017019961.1:c.3386+62A>G XP_016875450.1:n.3386+62A>G
XM_017019962.2:c.2375+62A>G XP_016875451.1:n.2375+62A>G
NM_024312.5:c.3602+62A>G MANE Select NP_077288.2:n.3602+62A>G
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