Canonical Allele Identifier: CA9043535
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 445930
ClinVar RCV Id: RCV000514004 RCV001272267 RCV001296499
dbSNP Id: rs781163821
ExAC: 19:1397400 G / GT
gnomAD v2: 19-1397400-G-GT
gnomAD v3: 19-1397401-G-GT
gnomAD v4: 19-1397401-G-GT
MyVariant Identifiers: chr19:g.1397400_1397401insT (hg19) chr19:g.1397401_1397402insT (hg38)
ERepo: CA9043535/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397402dup , CM000681.2:g.1397402dup GRCh38
NC_000019.9:g.1397401dup , CM000681.1:g.1397401dup GRCh37
NC_000019.8:g.1348401dup NCBI36
NG_008283.1:g.18519dup
NG_009785.1:g.9152dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.668dup MANE Select ENSP00000252288.1:p.Tyr223Ter
ENST00000640164.1:n.501dup
ENST00000640762.1:c.599dup ENSP00000492031.1:p.Tyr200Ter
ENST00000252288.6:c.668dup ENSP00000252288.1:p.Tyr223Ter
NM_000156.5:c.668dup NP_000147.1:p.Tyr223Ter
NM_000156.6:c.668dup MANE Select NP_000147.1:p.Tyr223Ter
Search 100 bp 5'
Search 100 bp 3'