Canonical Allele Identifier: CA402995151
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1391239
ClinVar RCV Id: RCV001892971
dbSNP Id: rs1600158570
MyVariant Identifiers: chr19:g.1399154C>T (hg19) chr19:g.1399155C>T (hg38)
ERepo: CA402995151/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399155C>T , CM000681.2:g.1399155C>T GRCh38
NC_000019.9:g.1399154C>T , CM000681.1:g.1399154C>T GRCh37
NC_000019.8:g.1350154C>T NCBI36
NG_009785.1:g.7399G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.432G>A MANE Select ENSP00000252288.1:p.Trp144Ter
ENST00000447102.8:c.432G>A ENSP00000403536.2:p.Trp144Ter
ENST00000591788.3:c.115G>A
ENST00000640164.1:n.265G>A
ENST00000640762.1:c.363G>A ENSP00000492031.1:p.Trp121Ter
ENST00000252288.6:c.432G>A ENSP00000252288.1:p.Trp144Ter
ENST00000447102.7:c.432G>A ENSP00000403536.2:p.Trp144Ter
ENST00000591788.2:c.117G>A ENSP00000466341.2:p.Trp39Ter
NM_000156.5:c.432G>A NP_000147.1:p.Trp144Ter
NM_138924.2:c.432G>A NP_620279.1:p.Trp144Ter
NM_000156.6:c.432G>A MANE Select NP_000147.1:p.Trp144Ter
NM_138924.3:c.432G>A NP_620279.1:p.Trp144Ter
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