Canonical Allele Identifier: CA631301058

Gene: GAMT

Linked Data

• dbSNP Id: rs779257170
• gnomAD v2: 19-1401304-AGGC-A
• gnomAD v4: 19-1401305-AGGC-A
• MyVariant Identifiers: chr19:g.1401305_1401307del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401315_1401317del , CM000681.2:g.1401315_1401317del	GRCh38
NC_000019.9:g.1401314_1401316del , CM000681.1:g.1401314_1401316del	GRCh37
NC_000019.8:g.1352314_1352316del	NCBI36
NG_009785.1:g.5246_5248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.169_171del MANE Select	ENSP00000252288.1:p.Ala57del
ENST00000447102.8:c.169_171del	ENSP00000403536.2:p.Ala57del
ENST00000640762.1:c.112+57_112+59del	ENSP00000492031.1:n.112+57_112+59del
ENST00000252288.6:c.169_171del	ENSP00000252288.1:p.Ala57del
ENST00000447102.7:c.169_171del	ENSP00000403536.2:p.Ala57del
NM_000156.5:c.169_171del	NP_000147.1:p.Ala57del
NM_138924.2:c.169_171del	NP_620279.1:p.Ala57del
NM_000156.6:c.169_171del MANE Select	NP_000147.1:p.Ala57del
NM_138924.3:c.169_171del	NP_620279.1:p.Ala57del