Canonical Allele Identifier: CA10648349
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 328355
ClinVar RCV Id: RCV000392623
dbSNP Id: rs886054249
gnomAD v2: 19-1401553-G-A
gnomAD v3: 19-1401554-G-A
gnomAD v4: 19-1401554-G-A
MyVariant Identifiers: chr19:g.1401553G>A (hg19) chr19:g.1401554G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401554G>A , CM000681.2:g.1401554G>A GRCh38
NC_000019.9:g.1401553G>A , CM000681.1:g.1401553G>A GRCh37
NC_000019.8:g.1352553G>A NCBI36
NG_009785.1:g.5000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-78C>T ENSP00000403536.2:n.-78C>T
ENST00000447102.7:c.-78C>T ENSP00000403536.2:n.-78C>T
NM_000156.5:c.-78C>T NP_000147.1:n.-78C>T
NM_138924.2:c.-78C>T NP_620279.1:n.-78C>T
Search 100 bp 5'
Search 100 bp 3'