Canonical Allele Identifier: CA9043670
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs374724533
ExAC: 19:1399179 G / T
gnomAD v2: 19-1399179-G-T
gnomAD v3: 19-1399180-G-T
gnomAD v4: 19-1399180-G-T
MyVariant Identifiers: chr19:g.1399179G>T (hg19) chr19:g.1399180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399180G>T , CM000681.2:g.1399180G>T GRCh38
NC_000019.9:g.1399179G>T , CM000681.1:g.1399179G>T GRCh37
NC_000019.8:g.1350179G>T NCBI36
NG_009785.1:g.7374C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.407C>A MANE Select ENSP00000252288.1:p.Thr136Lys
ENST00000447102.8:c.407C>A ENSP00000403536.2:p.Thr136Lys
ENST00000591788.3:c.90C>A
ENST00000640164.1:n.240C>A
ENST00000640762.1:c.338C>A ENSP00000492031.1:p.Thr113Lys
ENST00000252288.6:c.407C>A ENSP00000252288.1:p.Thr136Lys
ENST00000447102.7:c.407C>A ENSP00000403536.2:p.Thr136Lys
ENST00000591788.2:c.92C>A ENSP00000466341.2:p.Thr31Lys
NM_000156.5:c.407C>A NP_000147.1:p.Thr136Lys
NM_138924.2:c.407C>A NP_620279.1:p.Thr136Lys
NM_000156.6:c.407C>A MANE Select NP_000147.1:p.Thr136Lys
NM_138924.3:c.407C>A NP_620279.1:p.Thr136Lys
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