Canonical Allele Identifier: CA288884

Gene: GAMT

Linked Data

• ClinVar Variation Id: 21068
• ClinVar RCV Id: RCV000020144 ; RCV000117117 ; RCV000272863 ; RCV000311501 ; RCV000676877 ; RCV001520666 ; RCV002311515
• dbSNP Id: rs17851582
• ExAC: 19:1397443 G / A
• gnomAD v2: 19-1397443-G-A
• gnomAD v3: 19-1397444-G-A
• gnomAD v4: 19-1397444-G-A
• MyVariant Identifiers: chr19:g.1397443G>A (hg19) ; chr19:g.1397444G>A (hg38)
• ERepo: CA288884/MONDO:0012999/026
• PubMed: PMID:11978605 ; PMID:20301745

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397444G>A , CM000681.2:g.1397444G>A	GRCh38
NC_000019.9:g.1397443G>A , CM000681.1:g.1397443G>A	GRCh37
NC_000019.8:g.1348443G>A	NCBI36
NG_008283.1:g.18561G>A
NG_009785.1:g.9110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.626C>T MANE Select	ENSP00000252288.1:p.Thr209Met
ENST00000640164.1:n.459C>T
ENST00000640762.1:c.557C>T	ENSP00000492031.1:p.Thr186Met
ENST00000252288.6:c.626C>T	ENSP00000252288.1:p.Thr209Met
NM_000156.5:c.626C>T	NP_000147.1:p.Thr209Met
NM_000156.6:c.626C>T MANE Select	NP_000147.1:p.Thr209Met