Canonical Allele Identifier: CA304065665
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398638C>G , CM000681.2:g.1398638C>G GRCh38
NC_000019.9:g.1398637C>G , CM000681.1:g.1398637C>G GRCh37
NC_000019.8:g.1349637C>G NCBI36
NG_009785.1:g.7916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.570+278G>C MANE Select ENSP00000252288.1:n.570+278G>C
ENST00000447102.8:c.*38G>C ENSP00000403536.2:n.*38G>C
ENST00000591788.3:c.363G>C
ENST00000640164.1:n.403+278G>C
ENST00000640762.1:c.501+278G>C ENSP00000492031.1:n.501+278G>C
ENST00000252288.6:c.570+278G>C ENSP00000252288.1:n.570+278G>C
ENST00000447102.7:c.*38G>C ENSP00000403536.2:n.*38G>C
ENST00000591788.2:c.365G>C ENSP00000466341.2:n.365G>C
NM_000156.5:c.570+278G>C NP_000147.1:n.570+278G>C
NM_138924.2:c.*38G>C NP_620279.1:n.*38G>C
NM_000156.6:c.570+278G>C MANE Select NP_000147.1:n.570+278G>C
NM_138924.3:c.*38G>C NP_620279.1:n.*38G>C
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