Canonical Allele Identifier: CA9043801

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1403508
• ClinVar RCV Id: RCV001909092
• dbSNP Id: rs765081198
• ExAC: 19:1401349 C / G
• gnomAD v2: 19-1401349-C-G
• MyVariant Identifiers: chr19:g.1401349C>G (hg19) ; chr19:g.1401350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401350C>G , CM000681.2:g.1401350C>G	GRCh38
NC_000019.9:g.1401349C>G , CM000681.1:g.1401349C>G	GRCh37
NC_000019.8:g.1352349C>G	NCBI36
NG_009785.1:g.5204G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.127G>C MANE Select	ENSP00000252288.1:p.Glu43Gln
ENST00000447102.8:c.127G>C	ENSP00000403536.2:p.Glu43Gln
ENST00000640762.1:c.112+15G>C	ENSP00000492031.1:n.112+15G>C
ENST00000252288.6:c.127G>C	ENSP00000252288.1:p.Glu43Gln
ENST00000447102.7:c.127G>C	ENSP00000403536.2:p.Glu43Gln
NM_000156.5:c.127G>C	NP_000147.1:p.Glu43Gln
NM_138924.2:c.127G>C	NP_620279.1:p.Glu43Gln
NM_000156.6:c.127G>C MANE Select	NP_000147.1:p.Glu43Gln
NM_138924.3:c.127G>C	NP_620279.1:p.Glu43Gln