Canonical Allele Identifier: CA2620427915
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101760024A>G , CM000674.2:g.101760024A>G GRCh38
NC_000012.11:g.102153802A>G , CM000674.1:g.102153802A>G GRCh37
NC_000012.10:g.100677933A>G NCBI36
NG_021243.1:g.75844T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3249+6T>C MANE Select ENSP00000299314.7:n.3249+6T>C
ENST00000299314.11:c.3249+6T>C ENSP00000299314.7:n.3249+6T>C
ENST00000549194.1:n.115+6T>C
ENST00000550718.1:c.61+6T>C
NM_024312.4:c.3249+6T>C NP_077288.2:n.3249+6T>C
XM_006719593.2:c.3249+6T>C XP_006719656.1:n.3249+6T>C
XM_011538731.1:c.3168+6T>C XP_011537033.1:n.3168+6T>C
XM_006719593.3:c.3249+6T>C XP_006719656.1:n.3249+6T>C
XM_011538731.2:c.3168+6T>C XP_011537033.1:n.3168+6T>C
XM_017019961.1:c.3033+6T>C XP_016875450.1:n.3033+6T>C
XM_017019962.2:c.2022+6T>C XP_016875451.1:n.2022+6T>C
NM_024312.5:c.3249+6T>C MANE Select NP_077288.2:n.3249+6T>C