Canonical Allele Identifier: CA402998134
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2683727
ClinVar RCV Id: RCV003482173
gnomAD v4: 19-1401362-T-C
MyVariant Identifiers: chr19:g.1401361T>C (hg19) chr19:g.1401362T>C (hg38)
ERepo: CA402998134/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401362T>C , CM000681.2:g.1401362T>C GRCh38
NC_000019.9:g.1401361T>C , CM000681.1:g.1401361T>C GRCh37
NC_000019.8:g.1352361T>C NCBI36
NG_009785.1:g.5192A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.115A>G MANE Select ENSP00000252288.1:p.Lys39Glu
ENST00000447102.8:c.115A>G ENSP00000403536.2:p.Lys39Glu
ENST00000640762.1:c.112+3A>G ENSP00000492031.1:n.112+3A>G
ENST00000252288.6:c.115A>G ENSP00000252288.1:p.Lys39Glu
ENST00000447102.7:c.115A>G ENSP00000403536.2:p.Lys39Glu
NM_000156.5:c.115A>G NP_000147.1:p.Lys39Glu
NM_138924.2:c.115A>G NP_620279.1:p.Lys39Glu
NM_000156.6:c.115A>G MANE Select NP_000147.1:p.Lys39Glu
NM_138924.3:c.115A>G NP_620279.1:p.Lys39Glu
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