Canonical Allele Identifier: CA2058985319
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830862G= , CM000674.2:g.101830862G= GRCh38
NC_000012.11:g.102224640G= , CM000674.1:g.102224640G= GRCh37
NC_000012.10:g.100748771G= NCBI36
NG_021243.1:g.5006C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-187C= MANE Select ENSP00000299314.7:n.-187C=
ENST00000299314.11:c.-187C= ENSP00000299314.7:n.-187C=
NM_024312.4:c.-187C= NP_077288.2:n.-187C=
XM_006719593.2:c.-187C= XP_006719656.1:n.-187C=
NM_024312.5:c.-187C= MANE Select NP_077288.2:n.-187C=