Canonical Allele Identifier: CA2582641505
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399945-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399945A>G , CM000681.2:g.1399945A>G GRCh38
NC_000019.9:g.1399944A>G , CM000681.1:g.1399944A>G GRCh37
NC_000019.8:g.1350944A>G NCBI36
NG_009785.1:g.6609T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-7T>C MANE Select ENSP00000252288.1:n.182-7T>C
ENST00000447102.8:c.182-7T>C ENSP00000403536.2:n.182-7T>C
ENST00000640762.1:c.113-7T>C ENSP00000492031.1:n.113-7T>C
ENST00000252288.6:c.182-7T>C ENSP00000252288.1:n.182-7T>C
ENST00000447102.7:c.182-7T>C ENSP00000403536.2:n.182-7T>C
NM_000156.5:c.182-7T>C NP_000147.1:n.182-7T>C
NM_138924.2:c.182-7T>C NP_620279.1:n.182-7T>C
NM_000156.6:c.182-7T>C MANE Select NP_000147.1:n.182-7T>C
NM_138924.3:c.182-7T>C NP_620279.1:n.182-7T>C
Search 100 bp 5'
Search 100 bp 3'