Canonical Allele Identifier: CA2317699114
Gene: GAMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399145_1399147delinsGGT , CM000681.2:g.1399145_1399147delinsGGT GRCh38
NC_000019.9:g.1399144_1399146delinsGGT , CM000681.1:g.1399144_1399146delinsGGT GRCh37
NC_000019.8:g.1350144_1350146delinsGGT NCBI36
NG_009785.1:g.7407_7409delinsACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.440_442delinsACC MANE Select ENSP00000252288.1:p.His147=
ENST00000447102.8:c.440_442delinsACC ENSP00000403536.2:p.His147=
ENST00000591788.3:c.123_125delinsACC
ENST00000640164.1:n.273_275delinsACC
ENST00000640762.1:c.371_373delinsACC ENSP00000492031.1:p.His124=
ENST00000252288.6:c.440_442delinsACC ENSP00000252288.1:p.His147=
ENST00000447102.7:c.440_442delinsACC ENSP00000403536.2:p.His147=
ENST00000591788.2:c.125_127delinsACC ENSP00000466341.2:p.His42=
NM_000156.5:c.440_442delinsACC NP_000147.1:p.His147=
NM_138924.2:c.440_442delinsACC NP_620279.1:p.His147=
NM_000156.6:c.440_442delinsACC MANE Select NP_000147.1:p.His147=
NM_138924.3:c.440_442delinsACC NP_620279.1:p.His147=
Search 100 bp 5'
Search 100 bp 3'