Canonical Allele Identifier: CA481317552
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147188A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753410A>G , CM000674.2:g.101753410A>G GRCh38
NC_000012.11:g.102147188A>G , CM000674.1:g.102147188A>G GRCh37
NC_000012.10:g.100671319A>G NCBI36
NG_021243.1:g.82458T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3564T>C MANE Select ENSP00000299314.7:p.Tyr1188=
ENST00000299314.11:c.3564T>C ENSP00000299314.7:p.Tyr1188=
ENST00000549738.5:c.462T>C ENSP00000450161.1:n.462T>C
NM_024312.4:c.3564T>C NP_077288.2:p.Tyr1188=
XM_011538731.1:c.3483T>C XP_011537033.1:p.Tyr1161=
XM_011538731.2:c.3483T>C XP_011537033.1:p.Tyr1161=
XM_017019961.1:c.3348T>C XP_016875450.1:p.Tyr1116=
XM_017019962.2:c.2337T>C XP_016875451.1:p.Tyr779=
NM_024312.5:c.3564T>C MANE Select NP_077288.2:p.Tyr1188=
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