Canonical Allele Identifier: CA402996070

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399798-G-A
• MyVariant Identifiers: chr19:g.1399797G>A (hg19) ; chr19:g.1399798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399798G>A , CM000681.2:g.1399798G>A	GRCh38
NC_000019.9:g.1399797G>A , CM000681.1:g.1399797G>A	GRCh37
NC_000019.8:g.1350797G>A	NCBI36
NG_009785.1:g.6756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.322C>T MANE Select	ENSP00000252288.1:p.His108Tyr
ENST00000447102.8:c.322C>T	ENSP00000403536.2:p.His108Tyr
ENST00000591788.3:c.5C>T
ENST00000640762.1:c.253C>T	ENSP00000492031.1:p.His85Tyr
ENST00000252288.6:c.322C>T	ENSP00000252288.1:p.His108Tyr
ENST00000447102.7:c.322C>T	ENSP00000403536.2:p.His108Tyr
ENST00000591788.2:c.7C>T	ENSP00000466341.2:p.His3Tyr
NM_000156.5:c.322C>T	NP_000147.1:p.His108Tyr
NM_138924.2:c.322C>T	NP_620279.1:p.His108Tyr
NM_000156.6:c.322C>T MANE Select	NP_000147.1:p.His108Tyr
NM_138924.3:c.322C>T	NP_620279.1:p.His108Tyr