Canonical Allele Identifier: CA402996242
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1289666192
gnomAD v2: 19-1399823-A-G
gnomAD v4: 19-1399824-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399824A>G , CM000681.2:g.1399824A>G GRCh38
NC_000019.9:g.1399823A>G , CM000681.1:g.1399823A>G GRCh37
NC_000019.8:g.1350823A>G NCBI36
NG_009785.1:g.6730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.296T>C MANE Select ENSP00000252288.1:p.Leu99Pro
ENST00000447102.8:c.296T>C ENSP00000403536.2:p.Leu99Pro
ENST00000640762.1:c.227T>C ENSP00000492031.1:p.Leu76Pro
ENST00000252288.6:c.296T>C ENSP00000252288.1:p.Leu99Pro
ENST00000447102.7:c.296T>C ENSP00000403536.2:p.Leu99Pro
NM_000156.5:c.296T>C NP_000147.1:p.Leu99Pro
NM_138924.2:c.296T>C NP_620279.1:p.Leu99Pro
NM_000156.6:c.296T>C MANE Select NP_000147.1:p.Leu99Pro
NM_138924.3:c.296T>C NP_620279.1:p.Leu99Pro