Canonical Allele Identifier: CA402996214
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1982771
ClinVar RCV Id: RCV002766877
dbSNP Id: rs1380273839
gnomAD v2: 19-1399815-A-G
gnomAD v4: 19-1399816-A-G
MyVariant Identifiers: chr19:g.1399815A>G (hg19) chr19:g.1399816A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399816A>G , CM000681.2:g.1399816A>G GRCh38
NC_000019.9:g.1399815A>G , CM000681.1:g.1399815A>G GRCh37
NC_000019.8:g.1350815A>G NCBI36
NG_009785.1:g.6738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.304T>C MANE Select ENSP00000252288.1:p.Trp102Arg
ENST00000447102.8:c.304T>C ENSP00000403536.2:p.Trp102Arg
ENST00000640762.1:c.235T>C ENSP00000492031.1:p.Trp79Arg
ENST00000252288.6:c.304T>C ENSP00000252288.1:p.Trp102Arg
ENST00000447102.7:c.304T>C ENSP00000403536.2:p.Trp102Arg
NM_000156.5:c.304T>C NP_000147.1:p.Trp102Arg
NM_138924.2:c.304T>C NP_620279.1:p.Trp102Arg
NM_000156.6:c.304T>C MANE Select NP_000147.1:p.Trp102Arg
NM_138924.3:c.304T>C NP_620279.1:p.Trp102Arg
Search 100 bp 5'
Search 100 bp 3'