Canonical Allele Identifier: CA402996062

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399797-T-A
• MyVariant Identifiers: chr19:g.1399796T>A (hg19) ; chr19:g.1399797T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399797T>A , CM000681.2:g.1399797T>A	GRCh38
NC_000019.9:g.1399796T>A , CM000681.1:g.1399796T>A	GRCh37
NC_000019.8:g.1350796T>A	NCBI36
NG_009785.1:g.6757A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.323A>T MANE Select	ENSP00000252288.1:p.His108Leu
ENST00000447102.8:c.323A>T	ENSP00000403536.2:p.His108Leu
ENST00000591788.3:c.6A>T
ENST00000640762.1:c.254A>T	ENSP00000492031.1:p.His85Leu
ENST00000252288.6:c.323A>T	ENSP00000252288.1:p.His108Leu
ENST00000447102.7:c.323A>T	ENSP00000403536.2:p.His108Leu
ENST00000591788.2:c.8A>T	ENSP00000466341.2:p.His3Leu
NM_000156.5:c.323A>T	NP_000147.1:p.His108Leu
NM_138924.2:c.323A>T	NP_620279.1:p.His108Leu
NM_000156.6:c.323A>T MANE Select	NP_000147.1:p.His108Leu
NM_138924.3:c.323A>T	NP_620279.1:p.His108Leu