Canonical Allele Identifier: CA9043689

Gene: GAMT

Linked Data

• dbSNP Id: rs752148967
• ExAC: 19:1399238 CGCCTCACCCA / C
• gnomAD v2: 19-1399238-CGCCTCACCCA-C
• gnomAD v4: 19-1399239-CGCCTCACCCA-C
• MyVariant Identifiers: chr19:g.1399239_1399248del (hg19) ; chr19:g.1399240_1399249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399249_1399258del , CM000681.2:g.1399249_1399258del	GRCh38
NC_000019.9:g.1399248_1399257del , CM000681.1:g.1399248_1399257del	GRCh37
NC_000019.8:g.1350248_1350257del	NCBI36
NG_009785.1:g.7305_7314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-54_392-45del MANE Select	ENSP00000252288.1:n.392-54_392-45del
ENST00000447102.8:c.392-54_392-45del	ENSP00000403536.2:n.392-54_392-45del
ENST00000591788.3:c.75-54_75-45del
ENST00000640164.1:n.225-54_225-45del
ENST00000640762.1:c.323-54_323-45del	ENSP00000492031.1:n.323-54_323-45del
ENST00000252288.6:c.392-54_392-45del	ENSP00000252288.1:n.392-54_392-45del
ENST00000447102.7:c.392-54_392-45del	ENSP00000403536.2:n.392-54_392-45del
ENST00000591788.2:c.77-54_77-45del	ENSP00000466341.2:n.77-54_77-45del
NM_000156.5:c.392-54_392-45del	NP_000147.1:n.392-54_392-45del
NM_138924.2:c.392-54_392-45del	NP_620279.1:n.392-54_392-45del
NM_000156.6:c.392-54_392-45del MANE Select	NP_000147.1:n.392-54_392-45del
NM_138924.3:c.392-54_392-45del	NP_620279.1:n.392-54_392-45del