Canonical Allele Identifier: CA343060

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 38412
• ClinVar RCV Id: RCV000031966 ; RCV003137548 ; RCV001852635
• dbSNP Id: rs281865023
• gnomAD v4: 12-101796764-T-C
• MyVariant Identifiers: chr12:g.102190542T>C (hg19) ; chr12:g.101796764T>C (hg38)
• PubMed: PMID:16630736 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796764T>C , CM000674.2:g.101796764T>C	GRCh38
NC_000012.11:g.102190542T>C , CM000674.1:g.102190542T>C	GRCh37
NC_000012.10:g.100714673T>C	NCBI36
NG_021243.1:g.39104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.118-2A>G MANE Select	ENSP00000299314.7:n.118-2A>G
ENST00000647144.1:n.238-2A>G
ENST00000299314.11:c.118-2A>G	ENSP00000299314.7:n.118-2A>G
ENST00000392919.4:c.118-2A>G	ENSP00000376651.4:n.118-2A>G
ENST00000549165.1:c.118-2A>G	ENSP00000450413.1:n.118-2A>G
ENST00000549940.5:c.118-2A>G	ENSP00000449150.1:n.118-2A>G
NM_024312.4:c.118-2A>G	NP_077288.2:n.118-2A>G
XM_006719593.2:c.118-2A>G	XP_006719656.1:n.118-2A>G
XM_011538731.1:c.37-2A>G	XP_011537033.1:n.37-2A>G
XM_006719593.3:c.118-2A>G	XP_006719656.1:n.118-2A>G
XM_011538731.2:c.37-2A>G	XP_011537033.1:n.37-2A>G
XM_017019961.1:c.-99-2A>G	XP_016875450.1:n.-99-2A>G
XM_017019962.2:c.-1233-2A>G	XP_016875451.1:n.-1233-2A>G
NM_024312.5:c.118-2A>G MANE Select	NP_077288.2:n.118-2A>G