Canonical Allele Identifier: CA2058957904
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770209C= , CM000674.2:g.101770209C= GRCh38
NC_000012.11:g.102163987C= , CM000674.1:g.102163987C= GRCh37
NC_000012.10:g.100688118C= NCBI36
NG_021243.1:g.65659G=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.1114-18G= MANE Select ENSP00000299314.7:n.1114-18G=
ENST00000299314.11:c.1114-18G= ENSP00000299314.7:n.1114-18G=
ENST00000549940.5:c.1114-18G= ENSP00000449150.1:n.1114-18G=
NM_024312.4:c.1114-18G= NP_077288.2:n.1114-18G=
XM_006719593.2:c.1114-18G= XP_006719656.1:n.1114-18G=
XM_011538731.1:c.1033-18G= XP_011537033.1:n.1033-18G=
XM_006719593.3:c.1114-18G= XP_006719656.1:n.1114-18G=
XM_011538731.2:c.1033-18G= XP_011537033.1:n.1033-18G=
XM_017019961.1:c.898-18G= XP_016875450.1:n.898-18G=
XM_017019962.2:c.-114-18G= XP_016875451.1:n.-114-18G=
NM_024312.5:c.1114-18G= MANE Select NP_077288.2:n.1114-18G=