Canonical Allele Identifier: CA402995185
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1399158G>T (hg19) chr19:g.1399159G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399159G>T , CM000681.2:g.1399159G>T GRCh38
NC_000019.9:g.1399158G>T , CM000681.1:g.1399158G>T GRCh37
NC_000019.8:g.1350158G>T NCBI36
NG_009785.1:g.7395C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.428C>A MANE Select ENSP00000252288.1:p.Thr143Asn
ENST00000447102.8:c.428C>A ENSP00000403536.2:p.Thr143Asn
ENST00000591788.3:c.111C>A
ENST00000640164.1:n.261C>A
ENST00000640762.1:c.359C>A ENSP00000492031.1:p.Thr120Asn
ENST00000252288.6:c.428C>A ENSP00000252288.1:p.Thr143Asn
ENST00000447102.7:c.428C>A ENSP00000403536.2:p.Thr143Asn
ENST00000591788.2:c.113C>A ENSP00000466341.2:p.Thr38Asn
NM_000156.5:c.428C>A NP_000147.1:p.Thr143Asn
NM_138924.2:c.428C>A NP_620279.1:p.Thr143Asn
NM_000156.6:c.428C>A MANE Select NP_000147.1:p.Thr143Asn
NM_138924.3:c.428C>A NP_620279.1:p.Thr143Asn
Search 100 bp 5'
Search 100 bp 3'