Canonical Allele Identifier: CA402996319

Gene: GAMT

Linked Data

• ClinVar Variation Id: 653395
• ClinVar RCV Id: RCV000809163
• dbSNP Id: rs1600159259
• MyVariant Identifiers: chr19:g.1399831G>C (hg19) ; chr19:g.1399832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399832G>C , CM000681.2:g.1399832G>C	GRCh38
NC_000019.9:g.1399831G>C , CM000681.1:g.1399831G>C	GRCh37
NC_000019.8:g.1350831G>C	NCBI36
NG_009785.1:g.6722C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.288C>G MANE Select	ENSP00000252288.1:p.Phe96Leu
ENST00000447102.8:c.288C>G	ENSP00000403536.2:p.Phe96Leu
ENST00000640762.1:c.219C>G	ENSP00000492031.1:p.Phe73Leu
ENST00000252288.6:c.288C>G	ENSP00000252288.1:p.Phe96Leu
ENST00000447102.7:c.288C>G	ENSP00000403536.2:p.Phe96Leu
NM_000156.5:c.288C>G	NP_000147.1:p.Phe96Leu
NM_138924.2:c.288C>G	NP_620279.1:p.Phe96Leu
NM_000156.6:c.288C>G MANE Select	NP_000147.1:p.Phe96Leu
NM_138924.3:c.288C>G	NP_620279.1:p.Phe96Leu