Canonical Allele Identifier: CA402994757
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399021T>G (hg19) chr19:g.1399022T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399022T>G , CM000681.2:g.1399022T>G GRCh38
NC_000019.9:g.1399021T>G , CM000681.1:g.1399021T>G GRCh37
NC_000019.8:g.1350021T>G NCBI36
NG_009785.1:g.7532A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.464A>C MANE Select ENSP00000252288.1:p.His155Pro
ENST00000447102.8:c.464A>C ENSP00000403536.2:p.His155Pro
ENST00000591788.3:c.147A>C
ENST00000640164.1:n.297A>C
ENST00000640762.1:c.395A>C ENSP00000492031.1:p.His132Pro
ENST00000252288.6:c.464A>C ENSP00000252288.1:p.His155Pro
ENST00000447102.7:c.464A>C ENSP00000403536.2:p.His155Pro
ENST00000591788.2:c.149A>C ENSP00000466341.2:p.His50Pro
NM_000156.5:c.464A>C NP_000147.1:p.His155Pro
NM_138924.2:c.464A>C NP_620279.1:p.His155Pro
NM_000156.6:c.464A>C MANE Select NP_000147.1:p.His155Pro
NM_138924.3:c.464A>C NP_620279.1:p.His155Pro
Search 100 bp 5'
Search 100 bp 3'