Canonical Allele Identifier: CA402996088

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1308335
• ClinVar RCV Id: RCV001763247
• dbSNP Id: rs866376854
• gnomAD v2: 19-1399799-G-A
• gnomAD v4: 19-1399800-G-A
• MyVariant Identifiers: chr19:g.1399799G>A (hg19) ; chr19:g.1399800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399800G>A , CM000681.2:g.1399800G>A	GRCh38
NC_000019.9:g.1399799G>A , CM000681.1:g.1399799G>A	GRCh37
NC_000019.8:g.1350799G>A	NCBI36
NG_009785.1:g.6754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.320C>T MANE Select	ENSP00000252288.1:p.Thr107Ile
ENST00000447102.8:c.320C>T	ENSP00000403536.2:p.Thr107Ile
ENST00000591788.3:c.3C>T
ENST00000640762.1:c.251C>T	ENSP00000492031.1:p.Thr84Ile
ENST00000252288.6:c.320C>T	ENSP00000252288.1:p.Thr107Ile
ENST00000447102.7:c.320C>T	ENSP00000403536.2:p.Thr107Ile
ENST00000591788.2:c.5C>T	ENSP00000466341.2:p.Thr2Ile
NM_000156.5:c.320C>T	NP_000147.1:p.Thr107Ile
NM_138924.2:c.320C>T	NP_620279.1:p.Thr107Ile
NM_000156.6:c.320C>T MANE Select	NP_000147.1:p.Thr107Ile
NM_138924.3:c.320C>T	NP_620279.1:p.Thr107Ile