Canonical Allele Identifier: CA481317672
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147254A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753476A>C , CM000674.2:g.101753476A>C GRCh38
NC_000012.11:g.102147254A>C , CM000674.1:g.102147254A>C GRCh37
NC_000012.10:g.100671385A>C NCBI36
NG_021243.1:g.82392T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3498T>G MANE Select ENSP00000299314.7:p.Ala1166=
ENST00000299314.11:c.3498T>G ENSP00000299314.7:p.Ala1166=
ENST00000549738.5:c.396T>G ENSP00000450161.1:n.396T>G
NM_024312.4:c.3498T>G NP_077288.2:p.Ala1166=
XM_011538731.1:c.3417T>G XP_011537033.1:p.Ala1139=
XM_011538731.2:c.3417T>G XP_011537033.1:p.Ala1139=
XM_017019961.1:c.3282T>G XP_016875450.1:p.Ala1094=
XM_017019962.2:c.2271T>G XP_016875451.1:p.Ala757=
NM_024312.5:c.3498T>G MANE Select NP_077288.2:p.Ala1166=
Search 100 bp 5'
Search 100 bp 3'