Canonical Allele Identifier: CA402996402

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399843-C-A
• COSMIC: COSM4619105 ; COSM4619106
• MyVariant Identifiers: chr19:g.1399842C>A (hg19) ; chr19:g.1399843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399843C>A , CM000681.2:g.1399843C>A	GRCh38
NC_000019.9:g.1399842C>A , CM000681.1:g.1399842C>A	GRCh37
NC_000019.8:g.1350842C>A	NCBI36
NG_009785.1:g.6711G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.277G>T MANE Select	ENSP00000252288.1:p.Asp93Tyr
ENST00000447102.8:c.277G>T	ENSP00000403536.2:p.Asp93Tyr
ENST00000640762.1:c.208G>T	ENSP00000492031.1:p.Asp70Tyr
ENST00000252288.6:c.277G>T	ENSP00000252288.1:p.Asp93Tyr
ENST00000447102.7:c.277G>T	ENSP00000403536.2:p.Asp93Tyr
NM_000156.5:c.277G>T	NP_000147.1:p.Asp93Tyr
NM_138924.2:c.277G>T	NP_620279.1:p.Asp93Tyr
NM_000156.6:c.277G>T MANE Select	NP_000147.1:p.Asp93Tyr
NM_138924.3:c.277G>T	NP_620279.1:p.Asp93Tyr