Canonical Allele Identifier: CA2317700397

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401331_1401332delinsTA , CM000681.2:g.1401331_1401332delinsTA	GRCh38
NC_000019.9:g.1401330_1401331delinsTA , CM000681.1:g.1401330_1401331delinsTA	GRCh37
NC_000019.8:g.1352330_1352331delinsTA	NCBI36
NG_009785.1:g.5222_5223delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.145_146delinsTA MANE Select	ENSP00000252288.1:p.Tyr49=
ENST00000447102.8:c.145_146delinsTA	ENSP00000403536.2:p.Tyr49=
ENST00000640762.1:c.112+33_112+34delinsTA	ENSP00000492031.1:n.112+33_112+34delinsTA
ENST00000252288.6:c.145_146delinsTA	ENSP00000252288.1:p.Tyr49=
ENST00000447102.7:c.145_146delinsTA	ENSP00000403536.2:p.Tyr49=
NM_000156.5:c.145_146delinsTA	NP_000147.1:p.Tyr49=
NM_138924.2:c.145_146delinsTA	NP_620279.1:p.Tyr49=
NM_000156.6:c.145_146delinsTA MANE Select	NP_000147.1:p.Tyr49=
NM_138924.3:c.145_146delinsTA	NP_620279.1:p.Tyr49=