Canonical Allele Identifier: CA9043677
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 765806
ClinVar RCV Id: RCV000944268 RCV003925848
dbSNP Id: rs753979877
ExAC: 19:1399200 C / T
gnomAD v2: 19-1399200-C-T
gnomAD v3: 19-1399201-C-T
gnomAD v4: 19-1399201-C-T
MyVariant Identifiers: chr19:g.1399200C>T (hg19) chr19:g.1399201C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399201C>T , CM000681.2:g.1399201C>T GRCh38
NC_000019.9:g.1399200C>T , CM000681.1:g.1399200C>T GRCh37
NC_000019.8:g.1350200C>T NCBI36
NG_009785.1:g.7353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-6G>A MANE Select ENSP00000252288.1:n.392-6G>A
ENST00000447102.8:c.392-6G>A ENSP00000403536.2:n.392-6G>A
ENST00000591788.3:c.75-6G>A
ENST00000640164.1:n.225-6G>A
ENST00000640762.1:c.323-6G>A ENSP00000492031.1:n.323-6G>A
ENST00000252288.6:c.392-6G>A ENSP00000252288.1:n.392-6G>A
ENST00000447102.7:c.392-6G>A ENSP00000403536.2:n.392-6G>A
ENST00000591788.2:c.77-6G>A ENSP00000466341.2:n.77-6G>A
NM_000156.5:c.392-6G>A NP_000147.1:n.392-6G>A
NM_138924.2:c.392-6G>A NP_620279.1:n.392-6G>A
NM_000156.6:c.392-6G>A MANE Select NP_000147.1:n.392-6G>A
NM_138924.3:c.392-6G>A NP_620279.1:n.392-6G>A
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