Canonical Allele Identifier: CA2317699110
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399138T= , CM000681.2:g.1399138T= GRCh38
NC_000019.9:g.1399137T= , CM000681.1:g.1399137T= GRCh37
NC_000019.8:g.1350137T= NCBI36
NG_009785.1:g.7416A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.449A= MANE Select ENSP00000252288.1:p.Asn150=
ENST00000447102.8:c.449A= ENSP00000403536.2:p.Asn150=
ENST00000591788.3:c.132A=
ENST00000640164.1:n.282A=
ENST00000640762.1:c.380A= ENSP00000492031.1:p.Asn127=
ENST00000252288.6:c.449A= ENSP00000252288.1:p.Asn150=
ENST00000447102.7:c.449A= ENSP00000403536.2:p.Asn150=
ENST00000591788.2:c.134A= ENSP00000466341.2:p.Asn45=
NM_000156.5:c.449A= NP_000147.1:p.Asn150=
NM_138924.2:c.449A= NP_620279.1:p.Asn150=
NM_000156.6:c.449A= MANE Select NP_000147.1:p.Asn150=
NM_138924.3:c.449A= NP_620279.1:p.Asn150=
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