Canonical Allele Identifier: CA631044750

Gene: GAMT

Linked Data

• dbSNP Id: rs1359540297
• gnomAD v2: 19-1399426-T-TC
• gnomAD v3: 19-1399427-T-TC
• gnomAD v4: 19-1399427-T-TC
• MyVariant Identifiers: chr19:g.1399426_1399427insC (hg19) ; chr19:g.1399427_1399428insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399433dup , CM000681.2:g.1399433dup	GRCh38
NC_000019.9:g.1399432dup , CM000681.1:g.1399432dup	GRCh37
NC_000019.8:g.1350432dup	NCBI36
NG_009785.1:g.7126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.391+96dup MANE Select	ENSP00000252288.1:n.391+96dup
ENST00000447102.8:c.391+96dup	ENSP00000403536.2:n.391+96dup
ENST00000591788.3:c.74+96dup
ENST00000640164.1:n.224+96dup
ENST00000640762.1:c.322+96dup	ENSP00000492031.1:n.322+96dup
ENST00000252288.6:c.391+96dup	ENSP00000252288.1:n.391+96dup
ENST00000447102.7:c.391+96dup	ENSP00000403536.2:n.391+96dup
ENST00000591788.2:c.76+96dup	ENSP00000466341.2:n.76+96dup
NM_000156.5:c.391+96dup	NP_000147.1:n.391+96dup
NM_138924.2:c.391+96dup	NP_620279.1:n.391+96dup
NM_000156.6:c.391+96dup MANE Select	NP_000147.1:n.391+96dup
NM_138924.3:c.391+96dup	NP_620279.1:n.391+96dup