Canonical Allele Identifier: CA631044734
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 854960
ClinVar RCV Id: RCV001060114
dbSNP Id: rs1487842051
gnomAD v2: 19-1399144-GGT-G
gnomAD v4: 19-1399145-GGT-G
MyVariant Identifiers: chr19:g.1399145_1399146del (hg19) chr19:g.1399146_1399147del (hg38)
ERepo: CA631044734/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399153_1399154del , CM000681.2:g.1399153_1399154del GRCh38
NC_000019.9:g.1399152_1399153del , CM000681.1:g.1399152_1399153del GRCh37
NC_000019.8:g.1350152_1350153del NCBI36
NG_009785.1:g.7407_7408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.440_441del MANE Select ENSP00000252288.1:p.His147ProfsTer?
ENST00000447102.8:c.440_441del ENSP00000403536.2:p.His147ProfsTer?
ENST00000591788.3:c.123_124del
ENST00000640164.1:n.273_274del
ENST00000640762.1:c.371_372del ENSP00000492031.1:p.His124ProfsTer?
ENST00000252288.6:c.440_441del ENSP00000252288.1:p.His147ProfsTer?
ENST00000447102.7:c.440_441del ENSP00000403536.2:p.His147ProfsTer?
ENST00000591788.2:c.125_126del ENSP00000466341.2:p.His42ProfsTer?
NM_000156.5:c.440_441del NP_000147.1:p.His147ProfsTer?
NM_138924.2:c.440_441del NP_620279.1:p.His147ProfsTer?
NM_000156.6:c.440_441del MANE Select NP_000147.1:p.His147ProfsTer?
NM_138924.3:c.440_441del NP_620279.1:p.His147ProfsTer?
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