Canonical Allele Identifier: CA9043740
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 516094
ClinVar RCV Id: RCV000599783 RCV001127001 RCV001410989
dbSNP Id: rs559092619
ExAC: 19:1399804 C / T
gnomAD v2: 19-1399804-C-T
gnomAD v3: 19-1399805-C-T
gnomAD v4: 19-1399805-C-T
MyVariant Identifiers: chr19:g.1399804C>T (hg19) chr19:g.1399805C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399805C>T , CM000681.2:g.1399805C>T GRCh38
NC_000019.9:g.1399804C>T , CM000681.1:g.1399804C>T GRCh37
NC_000019.8:g.1350804C>T NCBI36
NG_009785.1:g.6749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.315G>A MANE Select ENSP00000252288.1:p.Arg105=
ENST00000447102.8:c.315G>A ENSP00000403536.2:p.Arg105=
ENST00000640762.1:c.246G>A ENSP00000492031.1:p.Arg82=
ENST00000252288.6:c.315G>A ENSP00000252288.1:p.Arg105=
ENST00000447102.7:c.315G>A ENSP00000403536.2:p.Arg105=
NM_000156.5:c.315G>A NP_000147.1:p.Arg105=
NM_138924.2:c.315G>A NP_620279.1:p.Arg105=
NM_000156.6:c.315G>A MANE Select NP_000147.1:p.Arg105=
NM_138924.3:c.315G>A NP_620279.1:p.Arg105=
Search 100 bp 5'
Search 100 bp 3'