Canonical Allele Identifier: CA9043527
Gene: GAMT HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1397365T>A
GRCh37 chr19:g.1397364T>A
Revel Score:
ENST00000252288 (MANE Select) 0.342
gnomAD v2:
19:1397364 T / A
gnomAD v3:
19:1397365 T / A
gnomAD v4:
chr19-1397365-T-A
Joint Max Group AF 0.00025887 (EAS)
Genomes Max Group AF 0.00006842 (EAS)
Exomes Max Group AF 0.00025274 (EAS)
ClinVar RCV:
RCV003058489
RCV004070147
ClinVar Variation:
2137773
dbSNP:
199932947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397365T>A , CM000681.2:g.1397365T>A GRCh38
NC_000019.9:g.1397364T>A , CM000681.1:g.1397364T>A GRCh37
NC_000019.8:g.1348364T>A NCBI36
NG_008283.1:g.18482T>A
NG_009785.1:g.9189A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.705A>T MANE Select ENSP00000252288.1:p.Lys235Asn
ENST00000640762.1:c.636A>T ENSP00000492031.1:p.Lys212Asn
ENST00000252288.6:c.705A>T ENSP00000252288.1:p.Lys235Asn
NM_000156.5:c.705A>T NP_000147.1:p.Lys235Asn
NM_000156.6:c.705A>T MANE Select NP_000147.1:p.Lys235Asn
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