Canonical Allele Identifier: CA504731607
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401312-G-C
MyVariant Identifiers: chr19:g.1401311G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401312G>C , CM000681.2:g.1401312G>C GRCh38
NC_000019.9:g.1401311G>C , CM000681.1:g.1401311G>C GRCh37
NC_000019.8:g.1352311G>C NCBI36
NG_009785.1:g.5242C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.165C>G MANE Select ENSP00000252288.1:p.Ala55=
ENST00000447102.8:c.165C>G ENSP00000403536.2:p.Ala55=
ENST00000640762.1:c.112+53C>G ENSP00000492031.1:n.112+53C>G
ENST00000252288.6:c.165C>G ENSP00000252288.1:p.Ala55=
ENST00000447102.7:c.165C>G ENSP00000403536.2:p.Ala55=
NM_000156.5:c.165C>G NP_000147.1:p.Ala55=
NM_138924.2:c.165C>G NP_620279.1:p.Ala55=
NM_000156.6:c.165C>G MANE Select NP_000147.1:p.Ala55=
NM_138924.3:c.165C>G NP_620279.1:p.Ala55=
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