Canonical Allele Identifier: CA343072
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2768
dbSNP Id: rs281865031

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764201C>T , CM000674.2:g.101764201C>T GRCh38
NC_000012.11:g.102157979C>T , CM000674.1:g.102157979C>T GRCh37
NC_000012.10:g.100682110C>T NCBI36
NG_021243.1:g.71667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2715+1G>A MANE Select ENSP00000299314.7:n.2715+1G>A
ENST00000299314.11:c.2715+1G>A ENSP00000299314.7:n.2715+1G>A
NM_024312.4:c.2715+1G>A NP_077288.2:n.2715+1G>A
XM_006719593.2:c.2715+1G>A XP_006719656.1:n.2715+1G>A
XM_011538731.1:c.2634+1G>A XP_011537033.1:n.2634+1G>A
XM_006719593.3:c.2715+1G>A XP_006719656.1:n.2715+1G>A
XM_011538731.2:c.2634+1G>A XP_011537033.1:n.2634+1G>A
XM_017019961.1:c.2499+1G>A XP_016875450.1:n.2499+1G>A
XM_017019962.2:c.1488+1G>A XP_016875451.1:n.1488+1G>A
NM_024312.5:c.2715+1G>A MANE Select NP_077288.2:n.2715+1G>A