Canonical Allele Identifier: CA402995230

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399164-C-G
• MyVariant Identifiers: chr19:g.1399163C>G (hg19) ; chr19:g.1399164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399164C>G , CM000681.2:g.1399164C>G	GRCh38
NC_000019.9:g.1399163C>G , CM000681.1:g.1399163C>G	GRCh37
NC_000019.8:g.1350163C>G	NCBI36
NG_009785.1:g.7390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.423G>C MANE Select	ENSP00000252288.1:p.Glu141Asp
ENST00000447102.8:c.423G>C	ENSP00000403536.2:p.Glu141Asp
ENST00000591788.3:c.106G>C
ENST00000640164.1:n.256G>C
ENST00000640762.1:c.354G>C	ENSP00000492031.1:p.Glu118Asp
ENST00000252288.6:c.423G>C	ENSP00000252288.1:p.Glu141Asp
ENST00000447102.7:c.423G>C	ENSP00000403536.2:p.Glu141Asp
ENST00000591788.2:c.108G>C	ENSP00000466341.2:p.Glu36Asp
NM_000156.5:c.423G>C	NP_000147.1:p.Glu141Asp
NM_138924.2:c.423G>C	NP_620279.1:p.Glu141Asp
NM_000156.6:c.423G>C MANE Select	NP_000147.1:p.Glu141Asp
NM_138924.3:c.423G>C	NP_620279.1:p.Glu141Asp