Canonical Allele Identifier: CA631301063

Gene: GAMT

Linked Data

• dbSNP Id: rs1338232339
• gnomAD v2: 19-1401521-G-A
• gnomAD v3: 19-1401522-G-A
• gnomAD v4: 19-1401522-G-A
• MyVariant Identifiers: chr19:g.1401521G>A (hg19) ; chr19:g.1401522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401522G>A , CM000681.2:g.1401522G>A	GRCh38
NC_000019.9:g.1401521G>A , CM000681.1:g.1401521G>A	GRCh37
NC_000019.8:g.1352521G>A	NCBI36
NG_009785.1:g.5032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-46C>T MANE Select	ENSP00000252288.1:n.-46C>T
ENST00000447102.8:c.-46C>T	ENSP00000403536.2:n.-46C>T
ENST00000252288.6:c.-46C>T	ENSP00000252288.1:n.-46C>T
ENST00000447102.7:c.-46C>T	ENSP00000403536.2:n.-46C>T
NM_000156.5:c.-46C>T	NP_000147.1:n.-46C>T
NM_138924.2:c.-46C>T	NP_620279.1:n.-46C>T
NM_000156.6:c.-46C>T MANE Select	NP_000147.1:n.-46C>T
NM_138924.3:c.-46C>T	NP_620279.1:n.-46C>T