Canonical Allele Identifier: CA9043666
Gene: GAMT HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1399168G>A
GRCh37 chr19:g.1399167G>A
Revel Score:
ENST00000252288 (MANE Select) 0.716
ENST00000447102 0.716
gnomAD v2:
19:1399167 G / A
gnomAD v3:
19:1399168 G / A
gnomAD v4:
chr19-1399168-G-A
Joint Max Group AF 0.00013604 (SAS)
Genomes Max Group AF 0.00016885 (SAS)
Exomes Max Group AF 0.00011549 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399168G>A , CM000681.2:g.1399168G>A GRCh38
NC_000019.9:g.1399167G>A , CM000681.1:g.1399167G>A GRCh37
NC_000019.8:g.1350167G>A NCBI36
NG_009785.1:g.7386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.419C>T MANE Select ENSP00000252288.1:p.Ser140Leu
ENST00000447102.8:c.419C>T ENSP00000403536.2:p.Ser140Leu
ENST00000591788.3:c.102C>T
ENST00000640164.1:n.252C>T
ENST00000640762.1:c.350C>T ENSP00000492031.1:p.Ser117Leu
ENST00000252288.6:c.419C>T ENSP00000252288.1:p.Ser140Leu
ENST00000447102.7:c.419C>T ENSP00000403536.2:p.Ser140Leu
ENST00000591788.2:c.104C>T ENSP00000466341.2:p.Ser35Leu
NM_000156.5:c.419C>T NP_000147.1:p.Ser140Leu
NM_138924.2:c.419C>T NP_620279.1:p.Ser140Leu
NM_000156.6:c.419C>T MANE Select NP_000147.1:p.Ser140Leu
NM_138924.3:c.419C>T NP_620279.1:p.Ser140Leu
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