Canonical Allele Identifier: CA402996954
Gene: GAMT HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1399896G>A
GRCh37 chr19:g.1399895G>A
Revel Score:
ENST00000252288 (MANE Select) 0.861
ENST00000447102 0.861
gnomAD v2:
19:1399895 G / A
gnomAD v3:
19:1399896 G / A
gnomAD v4:
chr19-1399896-G-A
Joint Max Group AF 0.00002891 (SAS)
Exomes Max Group AF 0.00003026 (SAS)
ClinVar RCV:
RCV000655356
RCV001835900
ClinVar Variation:
544251
dbSNP:
1441030187
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399896G>A , CM000681.2:g.1399896G>A GRCh38
NC_000019.9:g.1399895G>A , CM000681.1:g.1399895G>A GRCh37
NC_000019.8:g.1350895G>A NCBI36
NG_009785.1:g.6658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.224C>T MANE Select ENSP00000252288.1:p.Ala75Val
ENST00000447102.8:c.224C>T ENSP00000403536.2:p.Ala75Val
ENST00000640762.1:c.155C>T ENSP00000492031.1:p.Ala52Val
ENST00000252288.6:c.224C>T ENSP00000252288.1:p.Ala75Val
ENST00000447102.7:c.224C>T ENSP00000403536.2:p.Ala75Val
NM_000156.5:c.224C>T NP_000147.1:p.Ala75Val
NM_138924.2:c.224C>T NP_620279.1:p.Ala75Val
NM_000156.6:c.224C>T MANE Select NP_000147.1:p.Ala75Val
NM_138924.3:c.224C>T NP_620279.1:p.Ala75Val
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