Canonical Allele Identifier: CA254380
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 8305
dbSNP Id: rs104894694
gnomAD v4: 19-1401329-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401329T>G , CM000681.2:g.1401329T>G GRCh38
NC_000019.9:g.1401328T>G , CM000681.1:g.1401328T>G GRCh37
NC_000019.8:g.1352328T>G NCBI36
NG_009785.1:g.5225A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.148A>C MANE Select ENSP00000252288.1:p.Met50Leu
ENST00000447102.8:c.148A>C ENSP00000403536.2:p.Met50Leu
ENST00000640762.1:c.112+36A>C ENSP00000492031.1:n.112+36A>C
ENST00000252288.6:c.148A>C ENSP00000252288.1:p.Met50Leu
ENST00000447102.7:c.148A>C ENSP00000403536.2:p.Met50Leu
NM_000156.5:c.148A>C NP_000147.1:p.Met50Leu
NM_138924.2:c.148A>C NP_620279.1:p.Met50Leu
NM_000156.6:c.148A>C MANE Select NP_000147.1:p.Met50Leu
NM_138924.3:c.148A>C NP_620279.1:p.Met50Leu