Canonical Allele Identifier: CA9043669
Gene: GAMT HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1399180G>A
GRCh37 chr19:g.1399179G>A
Revel Score:
ENST00000252288 (MANE Select) 0.976
ENST00000447102 0.976
gnomAD v2:
19:1399179 G / A
gnomAD v3:
19:1399180 G / A
gnomAD v4:
chr19-1399180-G-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar Allele:
533179
ClinVar RCV:
RCV000655363
RCV001253217
RCV001566324
ClinVar Variation:
544257
dbSNP:
374724533
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399180G>A , CM000681.2:g.1399180G>A GRCh38
NC_000019.9:g.1399179G>A , CM000681.1:g.1399179G>A GRCh37
NC_000019.8:g.1350179G>A NCBI36
NG_009785.1:g.7374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.407C>T MANE Select ENSP00000252288.1:p.Thr136Met
ENST00000447102.8:c.407C>T ENSP00000403536.2:p.Thr136Met
ENST00000591788.3:c.90C>T
ENST00000640164.1:n.240C>T
ENST00000640762.1:c.338C>T ENSP00000492031.1:p.Thr113Met
ENST00000252288.6:c.407C>T ENSP00000252288.1:p.Thr136Met
ENST00000447102.7:c.407C>T ENSP00000403536.2:p.Thr136Met
ENST00000591788.2:c.92C>T ENSP00000466341.2:p.Thr31Met
NM_000156.5:c.407C>T NP_000147.1:p.Thr136Met
NM_138924.2:c.407C>T NP_620279.1:p.Thr136Met
NM_000156.6:c.407C>T MANE Select NP_000147.1:p.Thr136Met
NM_138924.3:c.407C>T NP_620279.1:p.Thr136Met
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