Canonical Allele Identifier: CA783506604
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1165996180
gnomAD v4: 19-1399318-C-T
MyVariant Identifiers: chr19:g.1399317C>T (hg19) chr19:g.1399318C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399318C>T , CM000681.2:g.1399318C>T GRCh38
NC_000019.9:g.1399317C>T , CM000681.1:g.1399317C>T GRCh37
NC_000019.8:g.1350317C>T NCBI36
NG_009785.1:g.7236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-123G>A MANE Select ENSP00000252288.1:n.392-123G>A
ENST00000447102.8:c.392-123G>A ENSP00000403536.2:n.392-123G>A
ENST00000591788.3:c.75-123G>A
ENST00000640164.1:n.225-123G>A
ENST00000640762.1:c.323-123G>A ENSP00000492031.1:n.323-123G>A
ENST00000252288.6:c.392-123G>A ENSP00000252288.1:n.392-123G>A
ENST00000447102.7:c.392-123G>A ENSP00000403536.2:n.392-123G>A
ENST00000591788.2:c.77-123G>A ENSP00000466341.2:n.77-123G>A
NM_000156.5:c.392-123G>A NP_000147.1:n.392-123G>A
NM_138924.2:c.392-123G>A NP_620279.1:n.392-123G>A
NM_000156.6:c.392-123G>A MANE Select NP_000147.1:n.392-123G>A
NM_138924.3:c.392-123G>A NP_620279.1:n.392-123G>A
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