Canonical Allele Identifier: CA631301049
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401271dup , CM000681.2:g.1401271dup GRCh38
NC_000019.9:g.1401270dup , CM000681.1:g.1401270dup GRCh37
NC_000019.8:g.1352270dup NCBI36
NG_009785.1:g.5287dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+29dup MANE Select ENSP00000252288.1:n.181+29dup
ENST00000447102.8:c.181+29dup ENSP00000403536.2:n.181+29dup
ENST00000640762.1:c.112+98dup ENSP00000492031.1:n.112+98dup
ENST00000252288.6:c.181+29dup ENSP00000252288.1:n.181+29dup
ENST00000447102.7:c.181+29dup ENSP00000403536.2:n.181+29dup
NM_000156.5:c.181+29dup NP_000147.1:n.181+29dup
NM_138924.2:c.181+29dup NP_620279.1:n.181+29dup
NM_000156.6:c.181+29dup MANE Select NP_000147.1:n.181+29dup
NM_138924.3:c.181+29dup NP_620279.1:n.181+29dup