Canonical Allele Identifier: CA402998087

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401340-T-C
• MyVariant Identifiers: chr19:g.1401339T>C (hg19) ; chr19:g.1401340T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401340T>C , CM000681.2:g.1401340T>C	GRCh38
NC_000019.9:g.1401339T>C , CM000681.1:g.1401339T>C	GRCh37
NC_000019.8:g.1352339T>C	NCBI36
NG_009785.1:g.5214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.137A>G MANE Select	ENSP00000252288.1:p.Glu46Gly
ENST00000447102.8:c.137A>G	ENSP00000403536.2:p.Glu46Gly
ENST00000640762.1:c.112+25A>G	ENSP00000492031.1:n.112+25A>G
ENST00000252288.6:c.137A>G	ENSP00000252288.1:p.Glu46Gly
ENST00000447102.7:c.137A>G	ENSP00000403536.2:p.Glu46Gly
NM_000156.5:c.137A>G	NP_000147.1:p.Glu46Gly
NM_138924.2:c.137A>G	NP_620279.1:p.Glu46Gly
NM_000156.6:c.137A>G MANE Select	NP_000147.1:p.Glu46Gly
NM_138924.3:c.137A>G	NP_620279.1:p.Glu46Gly