Canonical Allele Identifier: CA631301051

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1402763
• ClinVar RCV Id: RCV001908704
• dbSNP Id: rs1569009071
• gnomAD v2: 19-1401411-G-GC
• gnomAD v3: 19-1401412-G-GC
• gnomAD v4: 19-1401412-G-GC
• COSMIC: COSM4686372 ; COSM4686373
• MyVariant Identifiers: chr19:g.1401412_1401413insC (hg19)
• ERepo: CA631301051/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401418dup , CM000681.2:g.1401418dup	GRCh38
NC_000019.9:g.1401417dup , CM000681.1:g.1401417dup	GRCh37
NC_000019.8:g.1352417dup	NCBI36
NG_009785.1:g.5141dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.64dup MANE Select	ENSP00000252288.1:p.Ala22GlyfsTer?
ENST00000447102.8:c.64dup	ENSP00000403536.2:p.Ala22GlyfsTer?
ENST00000640762.1:c.64dup	ENSP00000492031.1:p.Ala22GlyfsTer?
ENST00000252288.6:c.64dup	ENSP00000252288.1:p.Ala22GlyfsTer?
ENST00000447102.7:c.64dup	ENSP00000403536.2:p.Ala22GlyfsTer?
NM_000156.5:c.64dup	NP_000147.1:p.Ala22GlyfsTer?
NM_138924.2:c.64dup	NP_620279.1:p.Ala22GlyfsTer?
NM_000156.6:c.64dup MANE Select	NP_000147.1:p.Ala22GlyfsTer?
NM_138924.3:c.64dup	NP_620279.1:p.Ala22GlyfsTer?