Canonical Allele Identifier: CA340769

Gene: GAMT

Linked Data

• ClinVar Variation Id: 8303
• ClinVar RCV Id: RCV000008801 ; RCV000799554 ; RCV000986201 ; RCV002251891 ; RCV002354153
• dbSNP Id: rs80338734
• ExAC: 19:1401417 C / G
• gnomAD v2: 19-1401417-C-G
• gnomAD v3: 19-1401418-C-G
• gnomAD v4: 19-1401418-C-G
• MyVariant Identifiers: chr19:g.1401417C>G (hg19) ; chr19:g.1401418C>G (hg38)
• PubMed: PMID:15651030 ; PMID:20301745
• ERepo: CA340769/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401418C>G , CM000681.2:g.1401418C>G	GRCh38
NC_000019.9:g.1401417C>G , CM000681.1:g.1401417C>G	GRCh37
NC_000019.8:g.1352417C>G	NCBI36
NG_009785.1:g.5136G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.59G>C MANE Select	ENSP00000252288.1:p.Trp20Ser
ENST00000447102.8:c.59G>C	ENSP00000403536.2:p.Trp20Ser
ENST00000640762.1:c.59G>C	ENSP00000492031.1:p.Trp20Ser
ENST00000252288.6:c.59G>C	ENSP00000252288.1:p.Trp20Ser
ENST00000447102.7:c.59G>C	ENSP00000403536.2:p.Trp20Ser
NM_000156.5:c.59G>C	NP_000147.1:p.Trp20Ser
NM_138924.2:c.59G>C	NP_620279.1:p.Trp20Ser
NM_000156.6:c.59G>C MANE Select	NP_000147.1:p.Trp20Ser
NM_138924.3:c.59G>C	NP_620279.1:p.Trp20Ser