Canonical Allele Identifier: CA631044786
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2030841
ClinVar RCV Id: RCV002872002
dbSNP Id: rs1222016863
gnomAD v2: 19-1399933-GC-G
gnomAD v4: 19-1399934-GC-G
MyVariant Identifiers: chr19:g.1399934del (hg19) chr19:g.1399935del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399939del , CM000681.2:g.1399939del GRCh38
NC_000019.9:g.1399938del , CM000681.1:g.1399938del GRCh37
NC_000019.8:g.1350938del NCBI36
NG_009785.1:g.6619del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.185del
ENST00000447102.8:c.185del
ENST00000640762.1:c.116del
ENST00000252288.6:c.185del
ENST00000447102.7:c.185del
NM_000156.5:c.185del
NM_138924.2:c.185del
NM_000156.6:c.185del
NM_138924.3:c.185del
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