Canonical Allele Identifier: CA402996040

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399794-T-G
• MyVariant Identifiers: chr19:g.1399793T>G (hg19) ; chr19:g.1399794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399794T>G , CM000681.2:g.1399794T>G	GRCh38
NC_000019.9:g.1399793T>G , CM000681.1:g.1399793T>G	GRCh37
NC_000019.8:g.1350793T>G	NCBI36
NG_009785.1:g.6760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.326A>C MANE Select	ENSP00000252288.1:p.Lys109Thr
ENST00000447102.8:c.326A>C	ENSP00000403536.2:p.Lys109Thr
ENST00000591788.3:c.9A>C
ENST00000640762.1:c.257A>C	ENSP00000492031.1:p.Lys86Thr
ENST00000252288.6:c.326A>C	ENSP00000252288.1:p.Lys109Thr
ENST00000447102.7:c.326A>C	ENSP00000403536.2:p.Lys109Thr
ENST00000591788.2:c.11A>C	ENSP00000466341.2:p.Lys4Thr
NM_000156.5:c.326A>C	NP_000147.1:p.Lys109Thr
NM_138924.2:c.326A>C	NP_620279.1:p.Lys109Thr
NM_000156.6:c.326A>C MANE Select	NP_000147.1:p.Lys109Thr
NM_138924.3:c.326A>C	NP_620279.1:p.Lys109Thr