Canonical Allele Identifier: CA314828
Gene: GAMT HGNC NCBI
ClinGen Classification:
Classification Uncertain Significance
Condition guanidinoacetate methyltransferase deficiency
VCEP Cerebral Creatine Deficiency Syndromes VCEP
ClinVar RCV:
RCV000553174
RCV000725402
RCV001833116
ClinVar Variation:
205592
COSMIC:
COSM3403820
dbSNP:
139890971
gnomAD v2:
19:1397419 G / A
gnomAD v3:
19:1397420 G / A
gnomAD v4:
chr19-1397420-G-A
Joint Max Group AF 0.00002988 (NFE)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00002743 (NFE)
MyVariant.info:
GRCh38 chr19:g.1397420G>A
GRCh37 chr19:g.1397419G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397420G>A , CM000681.2:g.1397420G>A GRCh38
NC_000019.9:g.1397419G>A , CM000681.1:g.1397419G>A GRCh37
NC_000019.8:g.1348419G>A NCBI36
NG_008283.1:g.18537G>A
NG_009785.1:g.9134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.650C>T MANE Select ENSP00000252288.1:p.Pro217Leu
ENST00000640164.1:n.483C>T
ENST00000640762.1:c.581C>T ENSP00000492031.1:p.Pro194Leu
ENST00000252288.6:c.650C>T ENSP00000252288.1:p.Pro217Leu
NM_000156.5:c.650C>T NP_000147.1:p.Pro217Leu
NM_000156.6:c.650C>T MANE Select NP_000147.1:p.Pro217Leu
Search 100 bp 5'
Search 100 bp 3'