Canonical Allele Identifier: CA9043553
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 577478
ClinVar RCV Id: RCV000700249 RCV001835926 RCV002360795
dbSNP Id: rs767887772
ExAC: 19:1397446 C / T
gnomAD v2: 19-1397446-C-T
gnomAD v3: 19-1397447-C-T
gnomAD v4: 19-1397447-C-T
MyVariant Identifiers: chr19:g.1397446C>T (hg19) chr19:g.1397447C>T (hg38)
ERepo: CA9043553/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397447C>T , CM000681.2:g.1397447C>T GRCh38
NC_000019.9:g.1397446C>T , CM000681.1:g.1397446C>T GRCh37
NC_000019.8:g.1348446C>T NCBI36
NG_008283.1:g.18564C>T
NG_009785.1:g.9107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.623G>A MANE Select ENSP00000252288.1:p.Arg208His
ENST00000640164.1:n.456G>A
ENST00000640762.1:c.554G>A ENSP00000492031.1:p.Arg185His
ENST00000252288.6:c.623G>A ENSP00000252288.1:p.Arg208His
NM_000156.5:c.623G>A NP_000147.1:p.Arg208His
NM_000156.6:c.623G>A MANE Select NP_000147.1:p.Arg208His
Search 100 bp 5'
Search 100 bp 3'