Canonical Allele Identifier: CA951171146
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1952848902
gnomAD v3: 12-101753317-A-G
gnomAD v4: 12-101753317-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753317A>G , CM000674.2:g.101753317A>G GRCh38
NC_000012.11:g.102147095A>G , CM000674.1:g.102147095A>G GRCh37
NC_000012.10:g.100671226A>G NCBI36
NG_021243.1:g.82551T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3602+55T>C MANE Select ENSP00000299314.7:n.3602+55T>C
ENST00000299314.11:c.3602+55T>C ENSP00000299314.7:n.3602+55T>C
ENST00000549738.5:c.500+55T>C ENSP00000450161.1:n.500+55T>C
NM_024312.4:c.3602+55T>C NP_077288.2:n.3602+55T>C
XM_011538731.1:c.3521+55T>C XP_011537033.1:n.3521+55T>C
XM_011538731.2:c.3521+55T>C XP_011537033.1:n.3521+55T>C
XM_017019961.1:c.3386+55T>C XP_016875450.1:n.3386+55T>C
XM_017019962.2:c.2375+55T>C XP_016875451.1:n.2375+55T>C
NM_024312.5:c.3602+55T>C MANE Select NP_077288.2:n.3602+55T>C
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