Canonical Allele Identifier: CA2573155798
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1443570
ClinVar RCV Id: RCV001987598
dbSNP Id: rs2144640900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401306_1401313del , CM000681.2:g.1401306_1401313del GRCh38
NC_000019.9:g.1401305_1401312del , CM000681.1:g.1401305_1401312del GRCh37
NC_000019.8:g.1352305_1352312del NCBI36
NG_009785.1:g.5241_5248del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.164_171del MANE Select ENSP00000252288.1:p.Ala55ValfsTer27
ENST00000447102.8:c.164_171del ENSP00000403536.2:p.Ala55ValfsTer27
ENST00000640762.1:c.112+52_112+59del ENSP00000492031.1:n.112+52_112+59del
ENST00000252288.6:c.164_171del ENSP00000252288.1:p.Ala55ValfsTer27
ENST00000447102.7:c.164_171del ENSP00000403536.2:p.Ala55ValfsTer27
NM_000156.5:c.164_171del NP_000147.1:p.Ala55ValfsTer27
NM_138924.2:c.164_171del NP_620279.1:p.Ala55ValfsTer27
NM_000156.6:c.164_171del MANE Select NP_000147.1:p.Ala55ValfsTer27
NM_138924.3:c.164_171del NP_620279.1:p.Ala55ValfsTer27
Search 100 bp 5'
Search 100 bp 3'