Canonical Allele Identifier: CA402996954

Gene: GAMT

Linked Data

• ClinVar Variation Id: 544251
• ClinVar RCV Id: RCV000655356 ; RCV001835900
• dbSNP Id: rs1441030187
• gnomAD v2: 19-1399895-G-A
• gnomAD v3: 19-1399896-G-A
• gnomAD v4: 19-1399896-G-A
• COSMIC: COSM5365573 ; COSM5365574
• MyVariant Identifiers: chr19:g.1399895G>A (hg19) ; chr19:g.1399896G>A (hg38)
• ERepo: CA402996954/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399896G>A , CM000681.2:g.1399896G>A	GRCh38
NC_000019.9:g.1399895G>A , CM000681.1:g.1399895G>A	GRCh37
NC_000019.8:g.1350895G>A	NCBI36
NG_009785.1:g.6658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.224C>T MANE Select	ENSP00000252288.1:p.Ala75Val
ENST00000447102.8:c.224C>T	ENSP00000403536.2:p.Ala75Val
ENST00000640762.1:c.155C>T	ENSP00000492031.1:p.Ala52Val
ENST00000252288.6:c.224C>T	ENSP00000252288.1:p.Ala75Val
ENST00000447102.7:c.224C>T	ENSP00000403536.2:p.Ala75Val
NM_000156.5:c.224C>T	NP_000147.1:p.Ala75Val
NM_138924.2:c.224C>T	NP_620279.1:p.Ala75Val
NM_000156.6:c.224C>T MANE Select	NP_000147.1:p.Ala75Val
NM_138924.3:c.224C>T	NP_620279.1:p.Ala75Val