Canonical Allele Identifier: CA2580612585
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1453224
ClinVar RCV Id: RCV001994756
dbSNP Id: rs1487842051
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399153_1399154dup , CM000681.2:g.1399153_1399154dup GRCh38
NC_000019.9:g.1399152_1399153dup , CM000681.1:g.1399152_1399153dup GRCh37
NC_000019.8:g.1350152_1350153dup NCBI36
NG_009785.1:g.7407_7408dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.440_441dup MANE Select ENSP00000252288.1:p.Gln148ThrfsTer14
ENST00000447102.8:c.440_441dup ENSP00000403536.2:p.Gln148ThrfsTer14
ENST00000591788.3:c.123_124dup
ENST00000640164.1:n.273_274dup
ENST00000640762.1:c.371_372dup ENSP00000492031.1:p.Gln125ThrfsTer14
ENST00000252288.6:c.440_441dup ENSP00000252288.1:p.Gln148ThrfsTer14
ENST00000447102.7:c.440_441dup ENSP00000403536.2:p.Gln148ThrfsTer14
ENST00000591788.2:c.125_126dup ENSP00000466341.2:p.Gln43ThrfsTer14
NM_000156.5:c.440_441dup NP_000147.1:p.Gln148ThrfsTer14
NM_138924.2:c.440_441dup NP_620279.1:p.Gln148ThrfsTer14
NM_000156.6:c.440_441dup MANE Select NP_000147.1:p.Gln148ThrfsTer14
NM_138924.3:c.440_441dup NP_620279.1:p.Gln148ThrfsTer14
Search 100 bp 5'
Search 100 bp 3'