Canonical Allele Identifier: CA402995011
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399139G>T (hg19) chr19:g.1399140G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399140G>T , CM000681.2:g.1399140G>T GRCh38
NC_000019.9:g.1399139G>T , CM000681.1:g.1399139G>T GRCh37
NC_000019.8:g.1350139G>T NCBI36
NG_009785.1:g.7414C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.447C>A MANE Select ENSP00000252288.1:p.Phe149Leu
ENST00000447102.8:c.447C>A ENSP00000403536.2:p.Phe149Leu
ENST00000591788.3:c.130C>A
ENST00000640164.1:n.280C>A
ENST00000640762.1:c.378C>A ENSP00000492031.1:p.Phe126Leu
ENST00000252288.6:c.447C>A ENSP00000252288.1:p.Phe149Leu
ENST00000447102.7:c.447C>A ENSP00000403536.2:p.Phe149Leu
ENST00000591788.2:c.132C>A ENSP00000466341.2:p.Phe44Leu
NM_000156.5:c.447C>A NP_000147.1:p.Phe149Leu
NM_138924.2:c.447C>A NP_620279.1:p.Phe149Leu
NM_000156.6:c.447C>A MANE Select NP_000147.1:p.Phe149Leu
NM_138924.3:c.447C>A NP_620279.1:p.Phe149Leu
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