Canonical Allele Identifier: CA402998063
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401329-T-A

Genomic Alleles

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

Transcript Alleles

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