Canonical Allele Identifier: CA2582641090
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399084-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399084T>C , CM000681.2:g.1399084T>C GRCh38
NC_000019.9:g.1399083T>C , CM000681.1:g.1399083T>C GRCh37
NC_000019.8:g.1350083T>C NCBI36
NG_009785.1:g.7470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.459+44A>G MANE Select ENSP00000252288.1:n.459+44A>G
ENST00000447102.8:c.459+44A>G ENSP00000403536.2:n.459+44A>G
ENST00000591788.3:c.142+44A>G
ENST00000640164.1:n.292+44A>G
ENST00000640762.1:c.390+44A>G ENSP00000492031.1:n.390+44A>G
ENST00000252288.6:c.459+44A>G ENSP00000252288.1:n.459+44A>G
ENST00000447102.7:c.459+44A>G ENSP00000403536.2:n.459+44A>G
ENST00000591788.2:c.144+44A>G ENSP00000466341.2:n.144+44A>G
NM_000156.5:c.459+44A>G NP_000147.1:n.459+44A>G
NM_138924.2:c.459+44A>G NP_620279.1:n.459+44A>G
NM_000156.6:c.459+44A>G MANE Select NP_000147.1:n.459+44A>G
NM_138924.3:c.459+44A>G NP_620279.1:n.459+44A>G
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