Canonical Allele Identifier: CA314802

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205579
• ClinVar RCV Id: RCV000187563 ; RCV001085182 ; RCV001275205 ; RCV002433841
• dbSNP Id: rs552210450
• ExAC: 19:1399821 G / A
• gnomAD v2: 19-1399821-G-A
• gnomAD v3: 19-1399822-G-A
• gnomAD v4: 19-1399822-G-A
• COSMIC: COSM991758 ; COSM991759
• MyVariant Identifiers: chr19:g.1399821G>A (hg19) ; chr19:g.1399822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399822G>A , CM000681.2:g.1399822G>A	GRCh38
NC_000019.9:g.1399821G>A , CM000681.1:g.1399821G>A	GRCh37
NC_000019.8:g.1350821G>A	NCBI36
NG_009785.1:g.6732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.298C>T MANE Select	ENSP00000252288.1:p.Arg100Trp
ENST00000447102.8:c.298C>T	ENSP00000403536.2:p.Arg100Trp
ENST00000640762.1:c.229C>T	ENSP00000492031.1:p.Arg77Trp
ENST00000252288.6:c.298C>T	ENSP00000252288.1:p.Arg100Trp
ENST00000447102.7:c.298C>T	ENSP00000403536.2:p.Arg100Trp
NM_000156.5:c.298C>T	NP_000147.1:p.Arg100Trp
NM_138924.2:c.298C>T	NP_620279.1:p.Arg100Trp
NM_000156.6:c.298C>T MANE Select	NP_000147.1:p.Arg100Trp
NM_138924.3:c.298C>T	NP_620279.1:p.Arg100Trp