Canonical Allele Identifier: CA783506580

Gene: GAMT

Linked Data

• dbSNP Id: rs1249442204
• gnomAD v3: 19-1399253-TCACCCGGCTC-T
• gnomAD v4: 19-1399253-TCACCCGGCTC-T
• MyVariant Identifiers: chr19:g.1399253_1399262del (hg19) ; chr19:g.1399254_1399263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399254_1399263del , CM000681.2:g.1399254_1399263del	GRCh38
NC_000019.9:g.1399253_1399262del , CM000681.1:g.1399253_1399262del	GRCh37
NC_000019.8:g.1350253_1350262del	NCBI36
NG_009785.1:g.7291_7300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-68_392-59del MANE Select	ENSP00000252288.1:n.392-68_392-59del
ENST00000447102.8:c.392-68_392-59del	ENSP00000403536.2:n.392-68_392-59del
ENST00000591788.3:c.75-68_75-59del
ENST00000640164.1:n.225-68_225-59del
ENST00000640762.1:c.323-68_323-59del	ENSP00000492031.1:n.323-68_323-59del
ENST00000252288.6:c.392-68_392-59del	ENSP00000252288.1:n.392-68_392-59del
ENST00000447102.7:c.392-68_392-59del	ENSP00000403536.2:n.392-68_392-59del
ENST00000591788.2:c.77-68_77-59del	ENSP00000466341.2:n.77-68_77-59del
NM_000156.5:c.392-68_392-59del	NP_000147.1:n.392-68_392-59del
NM_138924.2:c.392-68_392-59del	NP_620279.1:n.392-68_392-59del
NM_000156.6:c.392-68_392-59del MANE Select	NP_000147.1:n.392-68_392-59del
NM_138924.3:c.392-68_392-59del	NP_620279.1:n.392-68_392-59del