Canonical Allele Identifier: CA2058985295
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871339115

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830830C>T , CM000674.2:g.101830830C>T GRCh38
NC_000012.11:g.102224608C>T , CM000674.1:g.102224608C>T GRCh37
NC_000012.10:g.100748739C>T NCBI36
NG_021243.1:g.5038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-155G>A MANE Select ENSP00000299314.7:n.-155G>A
ENST00000299314.11:c.-155G>A ENSP00000299314.7:n.-155G>A
ENST00000392919.4:c.-155G>A ENSP00000376651.4:n.-155G>A
NM_024312.4:c.-155G>A NP_077288.2:n.-155G>A
XM_006719593.2:c.-155G>A XP_006719656.1:n.-155G>A
XM_017019961.1:c.-304G>A XP_016875450.1:n.-304G>A
NM_024312.5:c.-155G>A MANE Select NP_077288.2:n.-155G>A