Canonical Allele Identifier: CA402994580
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398989G>T (hg19) chr19:g.1398990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398990G>T , CM000681.2:g.1398990G>T GRCh38
NC_000019.9:g.1398989G>T , CM000681.1:g.1398989G>T GRCh37
NC_000019.8:g.1349989G>T NCBI36
NG_009785.1:g.7564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.496C>A MANE Select ENSP00000252288.1:p.Leu166Ile
ENST00000447102.8:c.496C>A ENSP00000403536.2:p.Leu166Ile
ENST00000591788.3:c.179C>A
ENST00000640164.1:n.329C>A
ENST00000640762.1:c.427C>A ENSP00000492031.1:p.Leu143Ile
ENST00000252288.6:c.496C>A ENSP00000252288.1:p.Leu166Ile
ENST00000447102.7:c.496C>A ENSP00000403536.2:p.Leu166Ile
ENST00000591788.2:c.181C>A ENSP00000466341.2:p.Leu61Ile
NM_000156.5:c.496C>A NP_000147.1:p.Leu166Ile
NM_138924.2:c.496C>A NP_620279.1:p.Leu166Ile
NM_000156.6:c.496C>A MANE Select NP_000147.1:p.Leu166Ile
NM_138924.3:c.496C>A NP_620279.1:p.Leu166Ile
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