Canonical Allele Identifier: CA2735457961
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2144637069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399288_1399289insTC , CM000681.2:g.1399288_1399289insTC GRCh38
NC_000019.9:g.1399287_1399288insTC , CM000681.1:g.1399287_1399288insTC GRCh37
NC_000019.8:g.1350287_1350288insTC NCBI36
NG_009785.1:g.7265_7266insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-94_392-93insGA MANE Select ENSP00000252288.1:n.392-94_392-93insGA
ENST00000447102.8:c.392-94_392-93insGA ENSP00000403536.2:n.392-94_392-93insGA
ENST00000591788.3:c.75-94_75-93insGA
ENST00000640164.1:n.225-94_225-93insGA
ENST00000640762.1:c.323-94_323-93insGA ENSP00000492031.1:n.323-94_323-93insGA
ENST00000252288.6:c.392-94_392-93insGA ENSP00000252288.1:n.392-94_392-93insGA
ENST00000447102.7:c.392-94_392-93insGA ENSP00000403536.2:n.392-94_392-93insGA
ENST00000591788.2:c.77-94_77-93insGA ENSP00000466341.2:n.77-94_77-93insGA
NM_000156.5:c.392-94_392-93insGA NP_000147.1:n.392-94_392-93insGA
NM_138924.2:c.392-94_392-93insGA NP_620279.1:n.392-94_392-93insGA
NM_000156.6:c.392-94_392-93insGA MANE Select NP_000147.1:n.392-94_392-93insGA
NM_138924.3:c.392-94_392-93insGA NP_620279.1:n.392-94_392-93insGA
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