Canonical Allele Identifier: CA386292462
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147234T>G (hg19) chr12:g.101753456T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753456T>G , CM000674.2:g.101753456T>G GRCh38
NC_000012.11:g.102147234T>G , CM000674.1:g.102147234T>G GRCh37
NC_000012.10:g.100671365T>G NCBI36
NG_021243.1:g.82412A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3518A>C MANE Select ENSP00000299314.7:p.Glu1173Ala
ENST00000299314.11:c.3518A>C ENSP00000299314.7:p.Glu1173Ala
ENST00000549738.5:c.416A>C ENSP00000450161.1:n.416A>C
NM_024312.4:c.3518A>C NP_077288.2:p.Glu1173Ala
XM_011538731.1:c.3437A>C XP_011537033.1:p.Glu1146Ala
XM_011538731.2:c.3437A>C XP_011537033.1:p.Glu1146Ala
XM_017019961.1:c.3302A>C XP_016875450.1:p.Glu1101Ala
XM_017019962.2:c.2291A>C XP_016875451.1:p.Glu764Ala
NM_024312.5:c.3518A>C MANE Select NP_077288.2:p.Glu1173Ala
Search 100 bp 5'
Search 100 bp 3'