Canonical Allele Identifier: CA9043742
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 431818
ClinVar RCV Id: RCV000498594 RCV001307228 RCV001834603
dbSNP Id: rs757909053
ExAC: 19:1399806 G / A
gnomAD v2: 19-1399806-G-A
gnomAD v3: 19-1399807-G-A
gnomAD v4: 19-1399807-G-A
MyVariant Identifiers: chr19:g.1399806G>A (hg19) chr19:g.1399807G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399807G>A , CM000681.2:g.1399807G>A GRCh38
NC_000019.9:g.1399806G>A , CM000681.1:g.1399806G>A GRCh37
NC_000019.8:g.1350806G>A NCBI36
NG_009785.1:g.6747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.313C>T MANE Select ENSP00000252288.1:p.Arg105Trp
ENST00000447102.8:c.313C>T ENSP00000403536.2:p.Arg105Trp
ENST00000640762.1:c.244C>T ENSP00000492031.1:p.Arg82Trp
ENST00000252288.6:c.313C>T ENSP00000252288.1:p.Arg105Trp
ENST00000447102.7:c.313C>T ENSP00000403536.2:p.Arg105Trp
NM_000156.5:c.313C>T NP_000147.1:p.Arg105Trp
NM_138924.2:c.313C>T NP_620279.1:p.Arg105Trp
NM_000156.6:c.313C>T MANE Select NP_000147.1:p.Arg105Trp
NM_138924.3:c.313C>T NP_620279.1:p.Arg105Trp
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Search 100 bp 3'