Canonical Allele Identifier: CA304067374
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2192764
ClinVar RCV Id: RCV002607645
dbSNP Id: rs1033754572
gnomAD v4: 19-1401467-G-A
MyVariant Identifiers: chr19:g.1401466G>A (hg19) chr19:g.1401467G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401467G>A , CM000681.2:g.1401467G>A GRCh38
NC_000019.9:g.1401466G>A , CM000681.1:g.1401466G>A GRCh37
NC_000019.8:g.1352466G>A NCBI36
NG_009785.1:g.5087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.10C>T MANE Select ENSP00000252288.1:p.Pro4Ser
ENST00000447102.8:c.10C>T ENSP00000403536.2:p.Pro4Ser
ENST00000640762.1:c.10C>T ENSP00000492031.1:p.Pro4Ser
ENST00000252288.6:c.10C>T ENSP00000252288.1:p.Pro4Ser
ENST00000447102.7:c.10C>T ENSP00000403536.2:p.Pro4Ser
NM_000156.5:c.10C>T NP_000147.1:p.Pro4Ser
NM_138924.2:c.10C>T NP_620279.1:p.Pro4Ser
NM_000156.6:c.10C>T MANE Select NP_000147.1:p.Pro4Ser
NM_138924.3:c.10C>T NP_620279.1:p.Pro4Ser
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