Canonical Allele Identifier: CA481576815
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102155467T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761689T>G , CM000674.2:g.101761689T>G GRCh38
NC_000012.11:g.102155467T>G , CM000674.1:g.102155467T>G GRCh37
NC_000012.10:g.100679598T>G NCBI36
NG_021243.1:g.74179A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2790A>C MANE Select ENSP00000299314.7:p.Thr930=
ENST00000299314.11:c.2790A>C ENSP00000299314.7:p.Thr930=
NM_024312.4:c.2790A>C NP_077288.2:p.Thr930=
XM_006719593.2:c.2790A>C XP_006719656.1:p.Thr930=
XM_011538731.1:c.2709A>C XP_011537033.1:p.Thr903=
XM_006719593.3:c.2790A>C XP_006719656.1:p.Thr930=
XM_011538731.2:c.2709A>C XP_011537033.1:p.Thr903=
XM_017019961.1:c.2574A>C XP_016875450.1:p.Thr858=
XM_017019962.2:c.1563A>C XP_016875451.1:p.Thr521=
NM_024312.5:c.2790A>C MANE Select NP_077288.2:p.Thr930=