Canonical Allele Identifier: CA314846

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205601
• ClinVar RCV Id: RCV001833119 ; RCV002517863
• dbSNP Id: rs536055494
• ExAC: 19:1401352 T / C
• gnomAD v2: 19-1401352-T-C
• gnomAD v3: 19-1401353-T-C
• gnomAD v4: 19-1401353-T-C
• MyVariant Identifiers: chr19:g.1401352T>C (hg19) ; chr19:g.1401353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401353T>C , CM000681.2:g.1401353T>C	GRCh38
NC_000019.9:g.1401352T>C , CM000681.1:g.1401352T>C	GRCh37
NC_000019.8:g.1352352T>C	NCBI36
NG_009785.1:g.5201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.124A>G MANE Select	ENSP00000252288.1:p.Met42Val
ENST00000447102.8:c.124A>G	ENSP00000403536.2:p.Met42Val
ENST00000640762.1:c.112+12A>G	ENSP00000492031.1:n.112+12A>G
ENST00000252288.6:c.124A>G	ENSP00000252288.1:p.Met42Val
ENST00000447102.7:c.124A>G	ENSP00000403536.2:p.Met42Val
NM_000156.5:c.124A>G	NP_000147.1:p.Met42Val
NM_138924.2:c.124A>G	NP_620279.1:p.Met42Val
NM_000156.6:c.124A>G MANE Select	NP_000147.1:p.Met42Val
NM_138924.3:c.124A>G	NP_620279.1:p.Met42Val