Canonical Allele Identifier: CA783507852
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1189414243
gnomAD v4: 19-1401546-G-A
MyVariant Identifiers: chr19:g.1401545G>A (hg19) chr19:g.1401546G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401546G>A , CM000681.2:g.1401546G>A GRCh38
NC_000019.9:g.1401545G>A , CM000681.1:g.1401545G>A GRCh37
NC_000019.8:g.1352545G>A NCBI36
NG_009785.1:g.5008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-70C>T ENSP00000403536.2:n.-70C>T
ENST00000447102.7:c.-70C>T ENSP00000403536.2:n.-70C>T
NM_000156.5:c.-70C>T NP_000147.1:n.-70C>T
NM_138924.2:c.-70C>T NP_620279.1:n.-70C>T
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