Canonical Allele Identifier: CA402994634
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs761599682
gnomAD v3: 19-1399001-G-C
gnomAD v4: 19-1399001-G-C
MyVariant Identifiers: chr19:g.1399000G>C (hg19) chr19:g.1399001G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399001G>C , CM000681.2:g.1399001G>C GRCh38
NC_000019.9:g.1399000G>C , CM000681.1:g.1399000G>C GRCh37
NC_000019.8:g.1350000G>C NCBI36
NG_009785.1:g.7553C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.485C>G MANE Select ENSP00000252288.1:p.Pro162Arg
ENST00000447102.8:c.485C>G ENSP00000403536.2:p.Pro162Arg
ENST00000591788.3:c.168C>G
ENST00000640164.1:n.318C>G
ENST00000640762.1:c.416C>G ENSP00000492031.1:p.Pro139Arg
ENST00000252288.6:c.485C>G ENSP00000252288.1:p.Pro162Arg
ENST00000447102.7:c.485C>G ENSP00000403536.2:p.Pro162Arg
ENST00000591788.2:c.170C>G ENSP00000466341.2:p.Pro57Arg
NM_000156.5:c.485C>G NP_000147.1:p.Pro162Arg
NM_138924.2:c.485C>G NP_620279.1:p.Pro162Arg
NM_000156.6:c.485C>G MANE Select NP_000147.1:p.Pro162Arg
NM_138924.3:c.485C>G NP_620279.1:p.Pro162Arg
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