Canonical Allele Identifier: CA304067252

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1538513
• ClinVar RCV Id: RCV002162016
• dbSNP Id: rs767100879
• gnomAD v2: 19-1401311-G-A
• gnomAD v3: 19-1401312-G-A
• gnomAD v4: 19-1401312-G-A
• MyVariant Identifiers: chr19:g.1401311G>A (hg19) ; chr19:g.1401312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401312G>A , CM000681.2:g.1401312G>A	GRCh38
NC_000019.9:g.1401311G>A , CM000681.1:g.1401311G>A	GRCh37
NC_000019.8:g.1352311G>A	NCBI36
NG_009785.1:g.5242C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.165C>T MANE Select	ENSP00000252288.1:p.Ala55=
ENST00000447102.8:c.165C>T	ENSP00000403536.2:p.Ala55=
ENST00000640762.1:c.112+53C>T	ENSP00000492031.1:n.112+53C>T
ENST00000252288.6:c.165C>T	ENSP00000252288.1:p.Ala55=
ENST00000447102.7:c.165C>T	ENSP00000403536.2:p.Ala55=
NM_000156.5:c.165C>T	NP_000147.1:p.Ala55=
NM_138924.2:c.165C>T	NP_620279.1:p.Ala55=
NM_000156.6:c.165C>T MANE Select	NP_000147.1:p.Ala55=
NM_138924.3:c.165C>T	NP_620279.1:p.Ala55=