Canonical Allele Identifier: CA402998289

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401409-G-T
• MyVariant Identifiers: chr19:g.1401408G>T (hg19) ; chr19:g.1401409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401409G>T , CM000681.2:g.1401409G>T	GRCh38
NC_000019.9:g.1401408G>T , CM000681.1:g.1401408G>T	GRCh37
NC_000019.8:g.1352408G>T	NCBI36
NG_009785.1:g.5145C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.68C>A MANE Select	ENSP00000252288.1:p.Ala23Glu
ENST00000447102.8:c.68C>A	ENSP00000403536.2:p.Ala23Glu
ENST00000640762.1:c.68C>A	ENSP00000492031.1:p.Ala23Glu
ENST00000252288.6:c.68C>A	ENSP00000252288.1:p.Ala23Glu
ENST00000447102.7:c.68C>A	ENSP00000403536.2:p.Ala23Glu
NM_000156.5:c.68C>A	NP_000147.1:p.Ala23Glu
NM_138924.2:c.68C>A	NP_620279.1:p.Ala23Glu
NM_000156.6:c.68C>A MANE Select	NP_000147.1:p.Ala23Glu
NM_138924.3:c.68C>A	NP_620279.1:p.Ala23Glu