Canonical Allele Identifier: CA783446235
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1469638536
MyVariant Identifiers: chr19:g.1399156_1399158del (hg19) chr19:g.1399157_1399159del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399157_1399159del , CM000681.2:g.1399157_1399159del GRCh38
NC_000019.9:g.1399156_1399158del , CM000681.1:g.1399156_1399158del GRCh37
NC_000019.8:g.1350156_1350158del NCBI36
NG_009785.1:g.7395_7397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.428_430del MANE Select ENSP00000252288.1:p.Thr143_Trp144delinsArg
ENST00000447102.8:c.428_430del ENSP00000403536.2:p.Thr143_Trp144delinsArg
ENST00000591788.3:c.111_113del
ENST00000640164.1:n.261_263del
ENST00000640762.1:c.359_361del ENSP00000492031.1:p.Thr120_Trp121delinsArg
ENST00000252288.6:c.428_430del ENSP00000252288.1:p.Thr143_Trp144delinsArg
ENST00000447102.7:c.428_430del ENSP00000403536.2:p.Thr143_Trp144delinsArg
ENST00000591788.2:c.113_115del ENSP00000466341.2:p.Thr38_Trp39delinsArg
NM_000156.5:c.428_430del NP_000147.1:p.Thr143_Trp144delinsArg
NM_138924.2:c.428_430del NP_620279.1:p.Thr143_Trp144delinsArg
NM_000156.6:c.428_430del MANE Select NP_000147.1:p.Thr143_Trp144delinsArg
NM_138924.3:c.428_430del NP_620279.1:p.Thr143_Trp144delinsArg
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