Canonical Allele Identifier: CA783507367

Gene: GAMT

Linked Data

• dbSNP Id: rs1390584289
• MyVariant Identifiers: chr19:g.1401164_1401165insC (hg19) ; chr19:g.1401165_1401166insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401169dup , CM000681.2:g.1401169dup	GRCh38
NC_000019.9:g.1401168dup , CM000681.1:g.1401168dup	GRCh37
NC_000019.8:g.1352168dup	NCBI36
NG_009785.1:g.5388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+130dup MANE Select	ENSP00000252288.1:n.181+130dup
ENST00000447102.8:c.181+130dup	ENSP00000403536.2:n.181+130dup
ENST00000640762.1:c.112+199dup	ENSP00000492031.1:n.112+199dup
ENST00000252288.6:c.181+130dup	ENSP00000252288.1:n.181+130dup
ENST00000447102.7:c.181+130dup	ENSP00000403536.2:n.181+130dup
NM_000156.5:c.181+130dup	NP_000147.1:n.181+130dup
NM_138924.2:c.181+130dup	NP_620279.1:n.181+130dup
NM_000156.6:c.181+130dup MANE Select	NP_000147.1:n.181+130dup
NM_138924.3:c.181+130dup	NP_620279.1:n.181+130dup