Canonical Allele Identifier: CA2317699585

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1034093
• ClinVar RCV Id: RCV001336702
• dbSNP Id: rs2082624287

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399938_1399941dup , CM000681.2:g.1399938_1399941dup	GRCh38
NC_000019.9:g.1399937_1399940dup , CM000681.1:g.1399937_1399940dup	GRCh37
NC_000019.8:g.1350937_1350940dup	NCBI36
NG_009785.1:g.6613_6616dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.182-3_182dup
ENST00000447102.8:c.182-3_182dup
ENST00000640762.1:c.113-3_113dup
ENST00000252288.6:c.182-3_182dup
ENST00000447102.7:c.182-3_182dup
NM_000156.5:c.182-3_182dup
NM_138924.2:c.182-3_182dup
NM_000156.6:c.182-3_182dup
NM_138924.3:c.182-3_182dup