Canonical Allele Identifier: CA2576548762
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401218-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401218A>G , CM000681.2:g.1401218A>G GRCh38
NC_000019.9:g.1401217A>G , CM000681.1:g.1401217A>G GRCh37
NC_000019.8:g.1352217A>G NCBI36
NG_009785.1:g.5336T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+78T>C MANE Select ENSP00000252288.1:n.181+78T>C
ENST00000447102.8:c.181+78T>C ENSP00000403536.2:n.181+78T>C
ENST00000640762.1:c.112+147T>C ENSP00000492031.1:n.112+147T>C
ENST00000252288.6:c.181+78T>C ENSP00000252288.1:n.181+78T>C
ENST00000447102.7:c.181+78T>C ENSP00000403536.2:n.181+78T>C
NM_000156.5:c.181+78T>C NP_000147.1:n.181+78T>C
NM_138924.2:c.181+78T>C NP_620279.1:n.181+78T>C
NM_000156.6:c.181+78T>C MANE Select NP_000147.1:n.181+78T>C
NM_138924.3:c.181+78T>C NP_620279.1:n.181+78T>C
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