Canonical Allele Identifier: CA402994476
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398974G>A (hg19) chr19:g.1398975G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398975G>A , CM000681.2:g.1398975G>A GRCh38
NC_000019.9:g.1398974G>A , CM000681.1:g.1398974G>A GRCh37
NC_000019.8:g.1349974G>A NCBI36
NG_009785.1:g.7579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.511C>T MANE Select ENSP00000252288.1:p.Leu171Phe
ENST00000447102.8:c.511C>T ENSP00000403536.2:p.Leu171Phe
ENST00000591788.3:c.194C>T
ENST00000640164.1:n.344C>T
ENST00000640762.1:c.442C>T ENSP00000492031.1:p.Leu148Phe
ENST00000252288.6:c.511C>T ENSP00000252288.1:p.Leu171Phe
ENST00000447102.7:c.511C>T ENSP00000403536.2:p.Leu171Phe
ENST00000591788.2:c.196C>T ENSP00000466341.2:p.Leu66Phe
NM_000156.5:c.511C>T NP_000147.1:p.Leu171Phe
NM_138924.2:c.511C>T NP_620279.1:p.Leu171Phe
NM_000156.6:c.511C>T MANE Select NP_000147.1:p.Leu171Phe
NM_138924.3:c.511C>T NP_620279.1:p.Leu171Phe
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