Canonical Allele Identifier: CA2582642023
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401565-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401565A>G , CM000681.2:g.1401565A>G GRCh38
NC_000019.9:g.1401564A>G , CM000681.1:g.1401564A>G GRCh37
NC_000019.8:g.1352564A>G NCBI36
NG_009785.1:g.4989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-89T>C ENSP00000403536.2:n.-89T>C
ENST00000447102.7:c.-89T>C ENSP00000403536.2:n.-89T>C
NM_000156.5:c.-89T>C NP_000147.1:n.-89T>C
NM_138924.2:c.-89T>C NP_620279.1:n.-89T>C
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