Canonical Allele Identifier: CA2576548802

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401549-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401554del , CM000681.2:g.1401554del	GRCh38
NC_000019.9:g.1401553del , CM000681.1:g.1401553del	GRCh37
NC_000019.8:g.1352553del	NCBI36
NG_009785.1:g.5004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447102.8:c.-74del	ENSP00000403536.2:n.-74del
ENST00000447102.7:c.-74del	ENSP00000403536.2:n.-74del
NM_000156.5:c.-74del	NP_000147.1:n.-74del
NM_138924.2:c.-74del	NP_620279.1:n.-74del