Canonical Allele Identifier: CA386299062
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1182027219

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764847C>G , CM000674.2:g.101764847C>G GRCh38
NC_000012.11:g.102158625C>G , CM000674.1:g.102158625C>G GRCh37
NC_000012.10:g.100682756C>G NCBI36
NG_021243.1:g.71021G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2070G>C MANE Select ENSP00000299314.7:p.Gln690His
ENST00000299314.11:c.2070G>C ENSP00000299314.7:p.Gln690His
NM_024312.4:c.2070G>C NP_077288.2:p.Gln690His
XM_006719593.2:c.2070G>C XP_006719656.1:p.Gln690His
XM_011538731.1:c.1989G>C XP_011537033.1:p.Gln663His
XM_006719593.3:c.2070G>C XP_006719656.1:p.Gln690His
XM_011538731.2:c.1989G>C XP_011537033.1:p.Gln663His
XM_017019961.1:c.1854G>C XP_016875450.1:p.Gln618His
XM_017019962.2:c.843G>C XP_016875451.1:p.Gln281His
NM_024312.5:c.2070G>C MANE Select NP_077288.2:p.Gln690His