Canonical Allele Identifier: CA2582641378

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399667-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399672del , CM000681.2:g.1399672del	GRCh38
NC_000019.9:g.1399671del , CM000681.1:g.1399671del	GRCh37
NC_000019.8:g.1350671del	NCBI36
NG_009785.1:g.6886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.328-81del MANE Select	ENSP00000252288.1:n.328-81del
ENST00000447102.8:c.328-81del	ENSP00000403536.2:n.328-81del
ENST00000591788.3:c.11-81del
ENST00000640164.1:n.80del
ENST00000640762.1:c.259-81del	ENSP00000492031.1:n.259-81del
ENST00000252288.6:c.328-81del	ENSP00000252288.1:n.328-81del
ENST00000447102.7:c.328-81del	ENSP00000403536.2:n.328-81del
ENST00000591788.2:c.13-81del	ENSP00000466341.2:n.13-81del
NM_000156.5:c.328-81del	NP_000147.1:n.328-81del
NM_138924.2:c.328-81del	NP_620279.1:n.328-81del
NM_000156.6:c.328-81del MANE Select	NP_000147.1:n.328-81del
NM_138924.3:c.328-81del	NP_620279.1:n.328-81del