Canonical Allele Identifier: CA2582641093
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399102-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399103dup , CM000681.2:g.1399103dup GRCh38
NC_000019.9:g.1399102dup , CM000681.1:g.1399102dup GRCh37
NC_000019.8:g.1350102dup NCBI36
NG_009785.1:g.7451dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.459+25dup MANE Select ENSP00000252288.1:n.459+25dup
ENST00000447102.8:c.459+25dup ENSP00000403536.2:n.459+25dup
ENST00000591788.3:c.142+25dup
ENST00000640164.1:n.292+25dup
ENST00000640762.1:c.390+25dup ENSP00000492031.1:n.390+25dup
ENST00000252288.6:c.459+25dup ENSP00000252288.1:n.459+25dup
ENST00000447102.7:c.459+25dup ENSP00000403536.2:n.459+25dup
ENST00000591788.2:c.144+25dup ENSP00000466341.2:n.144+25dup
NM_000156.5:c.459+25dup NP_000147.1:n.459+25dup
NM_138924.2:c.459+25dup NP_620279.1:n.459+25dup
NM_000156.6:c.459+25dup MANE Select NP_000147.1:n.459+25dup
NM_138924.3:c.459+25dup NP_620279.1:n.459+25dup
Search 100 bp 5'
Search 100 bp 3'