Canonical Allele Identifier: CA783507364

Gene: GAMT

Linked Data

• dbSNP Id: rs1166647831
• gnomAD v3: 19-1401160-CT-C
• gnomAD v4: 19-1401160-CT-C
• MyVariant Identifiers: chr19:g.1401160del (hg19) ; chr19:g.1401161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401161del , CM000681.2:g.1401161del	GRCh38
NC_000019.9:g.1401160del , CM000681.1:g.1401160del	GRCh37
NC_000019.8:g.1352160del	NCBI36
NG_009785.1:g.5393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+135del MANE Select	ENSP00000252288.1:n.181+135del
ENST00000447102.8:c.181+135del	ENSP00000403536.2:n.181+135del
ENST00000640762.1:c.112+204del	ENSP00000492031.1:n.112+204del
ENST00000252288.6:c.181+135del	ENSP00000252288.1:n.181+135del
ENST00000447102.7:c.181+135del	ENSP00000403536.2:n.181+135del
NM_000156.5:c.181+135del	NP_000147.1:n.181+135del
NM_138924.2:c.181+135del	NP_620279.1:n.181+135del
NM_000156.6:c.181+135del MANE Select	NP_000147.1:n.181+135del
NM_138924.3:c.181+135del	NP_620279.1:n.181+135del