Canonical Allele Identifier: CA9043739
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 449690
ClinVar RCV Id: RCV000519993 RCV001764518 RCV003302757
dbSNP Id: rs145817990
ExAC: 19:1399802 T / G
gnomAD v2: 19-1399802-T-G
gnomAD v3: 19-1399803-T-G
gnomAD v4: 19-1399803-T-G
MyVariant Identifiers: chr19:g.1399802T>G (hg19) chr19:g.1399803T>G (hg38)
ERepo: CA9043739/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399803T>G , CM000681.2:g.1399803T>G GRCh38
NC_000019.9:g.1399802T>G , CM000681.1:g.1399802T>G GRCh37
NC_000019.8:g.1350802T>G NCBI36
NG_009785.1:g.6751A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.317A>C MANE Select ENSP00000252288.1:p.Gln106Pro
ENST00000447102.8:c.317A>C ENSP00000403536.2:p.Gln106Pro
ENST00000640762.1:c.248A>C ENSP00000492031.1:p.Gln83Pro
ENST00000252288.6:c.317A>C ENSP00000252288.1:p.Gln106Pro
ENST00000447102.7:c.317A>C ENSP00000403536.2:p.Gln106Pro
ENST00000591788.2:c.2A>C ENSP00000466341.2:p.Gln1Pro
NM_000156.5:c.317A>C NP_000147.1:p.Gln106Pro
NM_138924.2:c.317A>C NP_620279.1:p.Gln106Pro
NM_000156.6:c.317A>C MANE Select NP_000147.1:p.Gln106Pro
NM_138924.3:c.317A>C NP_620279.1:p.Gln106Pro
Search 100 bp 5'
Search 100 bp 3'