Canonical Allele Identifier: CA504730252

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2061356
• ClinVar RCV Id: RCV002942660
• gnomAD v4: 19-1399799-T-C
• MyVariant Identifiers: chr19:g.1399798T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399799T>C , CM000681.2:g.1399799T>C	GRCh38
NC_000019.9:g.1399798T>C , CM000681.1:g.1399798T>C	GRCh37
NC_000019.8:g.1350798T>C	NCBI36
NG_009785.1:g.6755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.321A>G MANE Select	ENSP00000252288.1:p.Thr107=
ENST00000447102.8:c.321A>G	ENSP00000403536.2:p.Thr107=
ENST00000591788.3:c.4A>G
ENST00000640762.1:c.252A>G	ENSP00000492031.1:p.Thr84=
ENST00000252288.6:c.321A>G	ENSP00000252288.1:p.Thr107=
ENST00000447102.7:c.321A>G	ENSP00000403536.2:p.Thr107=
ENST00000591788.2:c.6A>G	ENSP00000466341.2:p.Thr2=
NM_000156.5:c.321A>G	NP_000147.1:p.Thr107=
NM_138924.2:c.321A>G	NP_620279.1:p.Thr107=
NM_000156.6:c.321A>G MANE Select	NP_000147.1:p.Thr107=
NM_138924.3:c.321A>G	NP_620279.1:p.Thr107=