Canonical Allele Identifier: CA314786

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205569
• ClinVar RCV Id: RCV000655358 ; RCV001275200 ; RCV001704992 ; RCV002311267
• dbSNP Id: rs753228876
• ExAC: 19:1397414 C / T
• gnomAD v2: 19-1397414-C-T
• gnomAD v3: 19-1397415-C-T
• gnomAD v4: 19-1397415-C-T
• MyVariant Identifiers: chr19:g.1397414C>T (hg19) ; chr19:g.1397415C>T (hg38)
• ERepo: CA314786/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397415C>T , CM000681.2:g.1397415C>T	GRCh38
NC_000019.9:g.1397414C>T , CM000681.1:g.1397414C>T	GRCh37
NC_000019.8:g.1348414C>T	NCBI36
NG_008283.1:g.18532C>T
NG_009785.1:g.9139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.655G>A MANE Select	ENSP00000252288.1:p.Asp219Asn
ENST00000640164.1:n.488G>A
ENST00000640762.1:c.586G>A	ENSP00000492031.1:p.Asp196Asn
ENST00000252288.6:c.655G>A	ENSP00000252288.1:p.Asp219Asn
NM_000156.5:c.655G>A	NP_000147.1:p.Asp219Asn
NM_000156.6:c.655G>A MANE Select	NP_000147.1:p.Asp219Asn