Canonical Allele Identifier: CA631044737
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs769395857
gnomAD v2: 19-1399229-C-G
gnomAD v3: 19-1399230-C-G
gnomAD v4: 19-1399230-C-G
MyVariant Identifiers: chr19:g.1399229C>G (hg19) chr19:g.1399230C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399230C>G , CM000681.2:g.1399230C>G GRCh38
NC_000019.9:g.1399229C>G , CM000681.1:g.1399229C>G GRCh37
NC_000019.8:g.1350229C>G NCBI36
NG_009785.1:g.7324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-35G>C MANE Select ENSP00000252288.1:n.392-35G>C
ENST00000447102.8:c.392-35G>C ENSP00000403536.2:n.392-35G>C
ENST00000591788.3:c.75-35G>C
ENST00000640164.1:n.225-35G>C
ENST00000640762.1:c.323-35G>C ENSP00000492031.1:n.323-35G>C
ENST00000252288.6:c.392-35G>C ENSP00000252288.1:n.392-35G>C
ENST00000447102.7:c.392-35G>C ENSP00000403536.2:n.392-35G>C
ENST00000591788.2:c.77-35G>C ENSP00000466341.2:n.77-35G>C
NM_000156.5:c.392-35G>C NP_000147.1:n.392-35G>C
NM_138924.2:c.392-35G>C NP_620279.1:n.392-35G>C
NM_000156.6:c.392-35G>C MANE Select NP_000147.1:n.392-35G>C
NM_138924.3:c.392-35G>C NP_620279.1:n.392-35G>C
Search 100 bp 5'
Search 100 bp 3'