Canonical Allele Identifier: CA658799099
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 514443
ClinVar RCV Id: RCV000609604 RCV000655374
dbSNP Id: rs1555777328
gnomAD v4: 19-1401286-C-G
MyVariant Identifiers: chr19:g.1401285C>G (hg19) chr19:g.1401286C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401286C>G , CM000681.2:g.1401286C>G GRCh38
NC_000019.9:g.1401285C>G , CM000681.1:g.1401285C>G GRCh37
NC_000019.8:g.1352285C>G NCBI36
NG_009785.1:g.5268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+10G>C MANE Select ENSP00000252288.1:n.181+10G>C
ENST00000447102.8:c.181+10G>C ENSP00000403536.2:n.181+10G>C
ENST00000640762.1:c.112+79G>C ENSP00000492031.1:n.112+79G>C
ENST00000252288.6:c.181+10G>C ENSP00000252288.1:n.181+10G>C
ENST00000447102.7:c.181+10G>C ENSP00000403536.2:n.181+10G>C
NM_000156.5:c.181+10G>C NP_000147.1:n.181+10G>C
NM_138924.2:c.181+10G>C NP_620279.1:n.181+10G>C
NM_000156.6:c.181+10G>C MANE Select NP_000147.1:n.181+10G>C
NM_138924.3:c.181+10G>C NP_620279.1:n.181+10G>C
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