Canonical Allele Identifier: CA2058985316
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830859T= , CM000674.2:g.101830859T= GRCh38
NC_000012.11:g.102224637T= , CM000674.1:g.102224637T= GRCh37
NC_000012.10:g.100748768T= NCBI36
NG_021243.1:g.5009A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-184A= MANE Select ENSP00000299314.7:n.-184A=
ENST00000299314.11:c.-184A= ENSP00000299314.7:n.-184A=
NM_024312.4:c.-184A= NP_077288.2:n.-184A=
XM_006719593.2:c.-184A= XP_006719656.1:n.-184A=
NM_024312.5:c.-184A= MANE Select NP_077288.2:n.-184A=