Canonical Allele Identifier: CA2575265325
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830720-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830720G>T , CM000674.2:g.101830720G>T GRCh38
NC_000012.11:g.102224498G>T , CM000674.1:g.102224498G>T GRCh37
NC_000012.10:g.100748629G>T NCBI36
NG_021243.1:g.5148C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-45C>A MANE Select ENSP00000299314.7:n.-45C>A
ENST00000299314.11:c.-45C>A ENSP00000299314.7:n.-45C>A
ENST00000392919.4:c.-45C>A ENSP00000376651.4:n.-45C>A
ENST00000549940.5:c.-45C>A ENSP00000449150.1:n.-45C>A
NM_024312.4:c.-45C>A NP_077288.2:n.-45C>A
XM_006719593.2:c.-45C>A XP_006719656.1:n.-45C>A
XM_006719593.3:c.-45C>A XP_006719656.1:n.-45C>A
XM_017019961.1:c.-194C>A XP_016875450.1:n.-194C>A
XM_017019962.2:c.-1395C>A XP_016875451.1:n.-1395C>A
NM_024312.5:c.-45C>A MANE Select NP_077288.2:n.-45C>A
Search 100 bp 5'
Search 100 bp 3'