Canonical Allele Identifier: CA402995067

Gene: GAMT

Linked Data

• ClinVar Variation Id: 450331
• ClinVar RCV Id: RCV000521099 ; RCV000655370
• dbSNP Id: rs1555777047
• gnomAD v4: 19-1399146-G-T
• MyVariant Identifiers: chr19:g.1399145G>T (hg19) ; chr19:g.1399146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399146G>T , CM000681.2:g.1399146G>T	GRCh38
NC_000019.9:g.1399145G>T , CM000681.1:g.1399145G>T	GRCh37
NC_000019.8:g.1350145G>T	NCBI36
NG_009785.1:g.7408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.441C>A MANE Select	ENSP00000252288.1:p.His147Gln
ENST00000447102.8:c.441C>A	ENSP00000403536.2:p.His147Gln
ENST00000591788.3:c.124C>A
ENST00000640164.1:n.274C>A
ENST00000640762.1:c.372C>A	ENSP00000492031.1:p.His124Gln
ENST00000252288.6:c.441C>A	ENSP00000252288.1:p.His147Gln
ENST00000447102.7:c.441C>A	ENSP00000403536.2:p.His147Gln
ENST00000591788.2:c.126C>A	ENSP00000466341.2:p.His42Gln
NM_000156.5:c.441C>A	NP_000147.1:p.His147Gln
NM_138924.2:c.441C>A	NP_620279.1:p.His147Gln
NM_000156.6:c.441C>A MANE Select	NP_000147.1:p.His147Gln
NM_138924.3:c.441C>A	NP_620279.1:p.His147Gln