Canonical Allele Identifier: CA481576822
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102155478G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761700G>A , CM000674.2:g.101761700G>A GRCh38
NC_000012.11:g.102155478G>A , CM000674.1:g.102155478G>A GRCh37
NC_000012.10:g.100679609G>A NCBI36
NG_021243.1:g.74168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2779C>T MANE Select ENSP00000299314.7:p.Leu927=
ENST00000299314.11:c.2779C>T ENSP00000299314.7:p.Leu927=
NM_024312.4:c.2779C>T NP_077288.2:p.Leu927=
XM_006719593.2:c.2779C>T XP_006719656.1:p.Leu927=
XM_011538731.1:c.2698C>T XP_011537033.1:p.Leu900=
XM_006719593.3:c.2779C>T XP_006719656.1:p.Leu927=
XM_011538731.2:c.2698C>T XP_011537033.1:p.Leu900=
XM_017019961.1:c.2563C>T XP_016875450.1:p.Leu855=
XM_017019962.2:c.1552C>T XP_016875451.1:p.Leu518=
NM_024312.5:c.2779C>T MANE Select NP_077288.2:p.Leu927=