Canonical Allele Identifier: CA2317700276
Gene: GAMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401135C= , CM000681.2:g.1401135C= GRCh38
NC_000019.9:g.1401134C= , CM000681.1:g.1401134C= GRCh37
NC_000019.8:g.1352134C= NCBI36
NG_009785.1:g.5419G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+161G= MANE Select ENSP00000252288.1:n.181+161G=
ENST00000447102.8:c.181+161G= ENSP00000403536.2:n.181+161G=
ENST00000640762.1:c.112+230G= ENSP00000492031.1:n.112+230G=
ENST00000252288.6:c.181+161G= ENSP00000252288.1:n.181+161G=
ENST00000447102.7:c.181+161G= ENSP00000403536.2:n.181+161G=
NM_000156.5:c.181+161G= NP_000147.1:n.181+161G=
NM_138924.2:c.181+161G= NP_620279.1:n.181+161G=
NM_000156.6:c.181+161G= MANE Select NP_000147.1:n.181+161G=
NM_138924.3:c.181+161G= NP_620279.1:n.181+161G=
Search 100 bp 5'
Search 100 bp 3'