Canonical Allele Identifier: CA2317699501
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399808T= , CM000681.2:g.1399808T= GRCh38
NC_000019.9:g.1399807T= , CM000681.1:g.1399807T= GRCh37
NC_000019.8:g.1350807T= NCBI36
NG_009785.1:g.6746A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.312A= MANE Select ENSP00000252288.1:p.Pro104=
ENST00000447102.8:c.312A= ENSP00000403536.2:p.Pro104=
ENST00000640762.1:c.243A= ENSP00000492031.1:p.Pro81=
ENST00000252288.6:c.312A= ENSP00000252288.1:p.Pro104=
ENST00000447102.7:c.312A= ENSP00000403536.2:p.Pro104=
NM_000156.5:c.312A= NP_000147.1:p.Pro104=
NM_138924.2:c.312A= NP_620279.1:p.Pro104=
NM_000156.6:c.312A= MANE Select NP_000147.1:p.Pro104=
NM_138924.3:c.312A= NP_620279.1:p.Pro104=