Canonical Allele Identifier: CA9043745
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2145645
ClinVar RCV Id: RCV003065136 RCV003274188
dbSNP Id: rs754770522
ExAC: 19:1399820 C / T
gnomAD v2: 19-1399820-C-T
gnomAD v3: 19-1399821-C-T
gnomAD v4: 19-1399821-C-T
MyVariant Identifiers: chr19:g.1399820C>T (hg19) chr19:g.1399821C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399821C>T , CM000681.2:g.1399821C>T GRCh38
NC_000019.9:g.1399820C>T , CM000681.1:g.1399820C>T GRCh37
NC_000019.8:g.1350820C>T NCBI36
NG_009785.1:g.6733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.299G>A MANE Select ENSP00000252288.1:p.Arg100Gln
ENST00000447102.8:c.299G>A ENSP00000403536.2:p.Arg100Gln
ENST00000640762.1:c.230G>A ENSP00000492031.1:p.Arg77Gln
ENST00000252288.6:c.299G>A ENSP00000252288.1:p.Arg100Gln
ENST00000447102.7:c.299G>A ENSP00000403536.2:p.Arg100Gln
NM_000156.5:c.299G>A NP_000147.1:p.Arg100Gln
NM_138924.2:c.299G>A NP_620279.1:p.Arg100Gln
NM_000156.6:c.299G>A MANE Select NP_000147.1:p.Arg100Gln
NM_138924.3:c.299G>A NP_620279.1:p.Arg100Gln
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