Canonical Allele Identifier: CA2582641926

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401412-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401417_1401418dup , CM000681.2:g.1401417_1401418dup	GRCh38
NC_000019.9:g.1401416_1401417dup , CM000681.1:g.1401416_1401417dup	GRCh37
NC_000019.8:g.1352416_1352417dup	NCBI36
NG_009785.1:g.5140_5141dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.63_64dup MANE Select	ENSP00000252288.1:p.Ala22GlyfsTer21
ENST00000447102.8:c.63_64dup	ENSP00000403536.2:p.Ala22GlyfsTer21
ENST00000640762.1:c.63_64dup	ENSP00000492031.1:p.Ala22GlyfsTer?
ENST00000252288.6:c.63_64dup	ENSP00000252288.1:p.Ala22GlyfsTer21
ENST00000447102.7:c.63_64dup	ENSP00000403536.2:p.Ala22GlyfsTer21
NM_000156.5:c.63_64dup	NP_000147.1:p.Ala22GlyfsTer21
NM_138924.2:c.63_64dup	NP_620279.1:p.Ala22GlyfsTer21
NM_000156.6:c.63_64dup MANE Select	NP_000147.1:p.Ala22GlyfsTer21
NM_138924.3:c.63_64dup	NP_620279.1:p.Ala22GlyfsTer21