Canonical Allele Identifier: CA402998323

Gene: GAMT

Linked Data

• dbSNP Id: rs1378059855
• gnomAD v2: 19-1401416-C-G
• gnomAD v3: 19-1401417-C-G
• gnomAD v4: 19-1401417-C-G
• MyVariant Identifiers: chr19:g.1401416C>G (hg19) ; chr19:g.1401417C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401417C>G , CM000681.2:g.1401417C>G	GRCh38
NC_000019.9:g.1401416C>G , CM000681.1:g.1401416C>G	GRCh37
NC_000019.8:g.1352416C>G	NCBI36
NG_009785.1:g.5137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.60G>C MANE Select	ENSP00000252288.1:p.Trp20Cys
ENST00000447102.8:c.60G>C	ENSP00000403536.2:p.Trp20Cys
ENST00000640762.1:c.60G>C	ENSP00000492031.1:p.Trp20Cys
ENST00000252288.6:c.60G>C	ENSP00000252288.1:p.Trp20Cys
ENST00000447102.7:c.60G>C	ENSP00000403536.2:p.Trp20Cys
NM_000156.5:c.60G>C	NP_000147.1:p.Trp20Cys
NM_138924.2:c.60G>C	NP_620279.1:p.Trp20Cys
NM_000156.6:c.60G>C MANE Select	NP_000147.1:p.Trp20Cys
NM_138924.3:c.60G>C	NP_620279.1:p.Trp20Cys