Canonical Allele Identifier: CA386296343
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761685C>A , CM000674.2:g.101761685C>A GRCh38
NC_000012.11:g.102155463C>A , CM000674.1:g.102155463C>A GRCh37
NC_000012.10:g.100679594C>A NCBI36
NG_021243.1:g.74183G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2794G>T MANE Select ENSP00000299314.7:p.Ala932Ser
ENST00000299314.11:c.2794G>T ENSP00000299314.7:p.Ala932Ser
NM_024312.4:c.2794G>T NP_077288.2:p.Ala932Ser
XM_006719593.2:c.2794G>T XP_006719656.1:p.Ala932Ser
XM_011538731.1:c.2713G>T XP_011537033.1:p.Ala905Ser
XM_006719593.3:c.2794G>T XP_006719656.1:p.Ala932Ser
XM_011538731.2:c.2713G>T XP_011537033.1:p.Ala905Ser
XM_017019961.1:c.2578G>T XP_016875450.1:p.Ala860Ser
XM_017019962.2:c.1567G>T XP_016875451.1:p.Ala523Ser
NM_024312.5:c.2794G>T MANE Select NP_077288.2:p.Ala932Ser