Canonical Allele Identifier: CA402995410
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399187-A-T
MyVariant Identifiers: chr19:g.1399186A>T (hg19) chr19:g.1399187A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399187A>T , CM000681.2:g.1399187A>T GRCh38
NC_000019.9:g.1399186A>T , CM000681.1:g.1399186A>T GRCh37
NC_000019.8:g.1350186A>T NCBI36
NG_009785.1:g.7367T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.400T>A MANE Select ENSP00000252288.1:p.Tyr134Asn
ENST00000447102.8:c.400T>A ENSP00000403536.2:p.Tyr134Asn
ENST00000591788.3:c.83T>A
ENST00000640164.1:n.233T>A
ENST00000640762.1:c.331T>A ENSP00000492031.1:p.Tyr111Asn
ENST00000252288.6:c.400T>A ENSP00000252288.1:p.Tyr134Asn
ENST00000447102.7:c.400T>A ENSP00000403536.2:p.Tyr134Asn
ENST00000591788.2:c.85T>A ENSP00000466341.2:p.Tyr29Asn
NM_000156.5:c.400T>A NP_000147.1:p.Tyr134Asn
NM_138924.2:c.400T>A NP_620279.1:p.Tyr134Asn
NM_000156.6:c.400T>A MANE Select NP_000147.1:p.Tyr134Asn
NM_138924.3:c.400T>A NP_620279.1:p.Tyr134Asn
Search 100 bp 5'
Search 100 bp 3'