Canonical Allele Identifier: CA386296329
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761679A>G , CM000674.2:g.101761679A>G GRCh38
NC_000012.11:g.102155457A>G , CM000674.1:g.102155457A>G GRCh37
NC_000012.10:g.100679588A>G NCBI36
NG_021243.1:g.74189T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2800T>C MANE Select ENSP00000299314.7:p.Ser934Pro
ENST00000299314.11:c.2800T>C ENSP00000299314.7:p.Ser934Pro
NM_024312.4:c.2800T>C NP_077288.2:p.Ser934Pro
XM_006719593.2:c.2800T>C XP_006719656.1:p.Ser934Pro
XM_011538731.1:c.2719T>C XP_011537033.1:p.Ser907Pro
XM_006719593.3:c.2800T>C XP_006719656.1:p.Ser934Pro
XM_011538731.2:c.2719T>C XP_011537033.1:p.Ser907Pro
XM_017019961.1:c.2584T>C XP_016875450.1:p.Ser862Pro
XM_017019962.2:c.1573T>C XP_016875451.1:p.Ser525Pro
NM_024312.5:c.2800T>C MANE Select NP_077288.2:p.Ser934Pro