Canonical Allele Identifier: CA2317700313
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401205G= , CM000681.2:g.1401205G= GRCh38
NC_000019.9:g.1401204G= , CM000681.1:g.1401204G= GRCh37
NC_000019.8:g.1352204G= NCBI36
NG_009785.1:g.5349C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+91C= MANE Select ENSP00000252288.1:n.181+91C=
ENST00000447102.8:c.181+91C= ENSP00000403536.2:n.181+91C=
ENST00000640762.1:c.112+160C= ENSP00000492031.1:n.112+160C=
ENST00000252288.6:c.181+91C= ENSP00000252288.1:n.181+91C=
ENST00000447102.7:c.181+91C= ENSP00000403536.2:n.181+91C=
NM_000156.5:c.181+91C= NP_000147.1:n.181+91C=
NM_138924.2:c.181+91C= NP_620279.1:n.181+91C=
NM_000156.6:c.181+91C= MANE Select NP_000147.1:n.181+91C=
NM_138924.3:c.181+91C= NP_620279.1:n.181+91C=