Canonical Allele Identifier: CA304066551

Gene: GAMT

Linked Data

• dbSNP Id: rs756477997
• MyVariant Identifiers: chr19:g.1399778del (hg19) ; chr19:g.1399779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399781del , CM000681.2:g.1399781del	GRCh38
NC_000019.9:g.1399780del , CM000681.1:g.1399780del	GRCh37
NC_000019.8:g.1350780del	NCBI36
NG_009785.1:g.6775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+14del MANE Select	ENSP00000252288.1:n.327+14del
ENST00000447102.8:c.327+14del	ENSP00000403536.2:n.327+14del
ENST00000591788.3:c.10+14del
ENST00000640762.1:c.258+14del	ENSP00000492031.1:n.258+14del
ENST00000252288.6:c.327+14del	ENSP00000252288.1:n.327+14del
ENST00000447102.7:c.327+14del	ENSP00000403536.2:n.327+14del
ENST00000591788.2:c.12+14del	ENSP00000466341.2:n.12+14del
NM_000156.5:c.327+14del	NP_000147.1:n.327+14del
NM_138924.2:c.327+14del	NP_620279.1:n.327+14del
NM_000156.6:c.327+14del MANE Select	NP_000147.1:n.327+14del
NM_138924.3:c.327+14del	NP_620279.1:n.327+14del