Canonical Allele Identifier: CA386296313
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1331945263

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761671T>G , CM000674.2:g.101761671T>G GRCh38
NC_000012.11:g.102155449T>G , CM000674.1:g.102155449T>G GRCh37
NC_000012.10:g.100679580T>G NCBI36
NG_021243.1:g.74197A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2808A>C MANE Select ENSP00000299314.7:p.Arg936Ser
ENST00000299314.11:c.2808A>C ENSP00000299314.7:p.Arg936Ser
NM_024312.4:c.2808A>C NP_077288.2:p.Arg936Ser
XM_006719593.2:c.2808A>C XP_006719656.1:p.Arg936Ser
XM_011538731.1:c.2727A>C XP_011537033.1:p.Arg909Ser
XM_006719593.3:c.2808A>C XP_006719656.1:p.Arg936Ser
XM_011538731.2:c.2727A>C XP_011537033.1:p.Arg909Ser
XM_017019961.1:c.2592A>C XP_016875450.1:p.Arg864Ser
XM_017019962.2:c.1581A>C XP_016875451.1:p.Arg527Ser
NM_024312.5:c.2808A>C MANE Select NP_077288.2:p.Arg936Ser