Canonical Allele Identifier: CA304067210

Gene: GAMT

Linked Data

• dbSNP Id: rs992371976
• gnomAD v2: 19-1401248-A-C
• gnomAD v3: 19-1401249-A-C
• gnomAD v4: 19-1401249-A-C
• MyVariant Identifiers: chr19:g.1401248A>C (hg19) ; chr19:g.1401249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401249A>C , CM000681.2:g.1401249A>C	GRCh38
NC_000019.9:g.1401248A>C , CM000681.1:g.1401248A>C	GRCh37
NC_000019.8:g.1352248A>C	NCBI36
NG_009785.1:g.5305T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+47T>G MANE Select	ENSP00000252288.1:n.181+47T>G
ENST00000447102.8:c.181+47T>G	ENSP00000403536.2:n.181+47T>G
ENST00000640762.1:c.112+116T>G	ENSP00000492031.1:n.112+116T>G
ENST00000252288.6:c.181+47T>G	ENSP00000252288.1:n.181+47T>G
ENST00000447102.7:c.181+47T>G	ENSP00000403536.2:n.181+47T>G
NM_000156.5:c.181+47T>G	NP_000147.1:n.181+47T>G
NM_138924.2:c.181+47T>G	NP_620279.1:n.181+47T>G
NM_000156.6:c.181+47T>G MANE Select	NP_000147.1:n.181+47T>G
NM_138924.3:c.181+47T>G	NP_620279.1:n.181+47T>G