Canonical Allele Identifier: CA2317700502
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082634200
gnomAD v4: 19-1401497-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401497C>G , CM000681.2:g.1401497C>G GRCh38
NC_000019.9:g.1401496C>G , CM000681.1:g.1401496C>G GRCh37
NC_000019.8:g.1352496C>G NCBI36
NG_009785.1:g.5057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-21G>C MANE Select ENSP00000252288.1:n.-21G>C
ENST00000447102.8:c.-21G>C ENSP00000403536.2:n.-21G>C
ENST00000252288.6:c.-21G>C ENSP00000252288.1:n.-21G>C
ENST00000447102.7:c.-21G>C ENSP00000403536.2:n.-21G>C
NM_000156.5:c.-21G>C NP_000147.1:n.-21G>C
NM_138924.2:c.-21G>C NP_620279.1:n.-21G>C
NM_000156.6:c.-21G>C MANE Select NP_000147.1:n.-21G>C
NM_138924.3:c.-21G>C NP_620279.1:n.-21G>C
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