Canonical Allele Identifier: CA402998393
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401437-C-G
MyVariant Identifiers: chr19:g.1401436C>G (hg19) chr19:g.1401437C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401437C>G , CM000681.2:g.1401437C>G GRCh38
NC_000019.9:g.1401436C>G , CM000681.1:g.1401436C>G GRCh37
NC_000019.8:g.1352436C>G NCBI36
NG_009785.1:g.5117G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.40G>C MANE Select ENSP00000252288.1:p.Glu14Gln
ENST00000447102.8:c.40G>C ENSP00000403536.2:p.Glu14Gln
ENST00000640762.1:c.40G>C ENSP00000492031.1:p.Glu14Gln
ENST00000252288.6:c.40G>C ENSP00000252288.1:p.Glu14Gln
ENST00000447102.7:c.40G>C ENSP00000403536.2:p.Glu14Gln
NM_000156.5:c.40G>C NP_000147.1:p.Glu14Gln
NM_138924.2:c.40G>C NP_620279.1:p.Glu14Gln
NM_000156.6:c.40G>C MANE Select NP_000147.1:p.Glu14Gln
NM_138924.3:c.40G>C NP_620279.1:p.Glu14Gln
Search 100 bp 5'
Search 100 bp 3'