Canonical Allele Identifier: CA344273
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 41256
dbSNP Id: rs281865007

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761209T>C , CM000674.2:g.101761209T>C GRCh38
NC_000012.11:g.102154987T>C , CM000674.1:g.102154987T>C GRCh37
NC_000012.10:g.100679118T>C NCBI36
NG_021243.1:g.74659A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3053A>G MANE Select ENSP00000299314.7:p.Asp1018Gly
ENST00000299314.11:c.3053A>G ENSP00000299314.7:p.Asp1018Gly
NM_024312.4:c.3053A>G NP_077288.2:p.Asp1018Gly
XM_006719593.2:c.3053A>G XP_006719656.1:p.Asp1018Gly
XM_011538731.1:c.2972A>G XP_011537033.1:p.Asp991Gly
XM_006719593.3:c.3053A>G XP_006719656.1:p.Asp1018Gly
XM_011538731.2:c.2972A>G XP_011537033.1:p.Asp991Gly
XM_017019961.1:c.2837A>G XP_016875450.1:p.Asp946Gly
XM_017019962.2:c.1826A>G XP_016875451.1:p.Asp609Gly
NM_024312.5:c.3053A>G MANE Select NP_077288.2:p.Asp1018Gly