Canonical Allele Identifier: CA2582641944
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401490-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401490C>A , CM000681.2:g.1401490C>A GRCh38
NC_000019.9:g.1401489C>A , CM000681.1:g.1401489C>A GRCh37
NC_000019.8:g.1352489C>A NCBI36
NG_009785.1:g.5064G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-14G>T MANE Select ENSP00000252288.1:n.-14G>T
ENST00000447102.8:c.-14G>T ENSP00000403536.2:n.-14G>T
ENST00000640762.1:c.-14G>T ENSP00000492031.1:n.-14G>T
ENST00000252288.6:c.-14G>T ENSP00000252288.1:n.-14G>T
ENST00000447102.7:c.-14G>T ENSP00000403536.2:n.-14G>T
NM_000156.5:c.-14G>T NP_000147.1:n.-14G>T
NM_138924.2:c.-14G>T NP_620279.1:n.-14G>T
NM_000156.6:c.-14G>T MANE Select NP_000147.1:n.-14G>T
NM_138924.3:c.-14G>T NP_620279.1:n.-14G>T
Search 100 bp 5'
Search 100 bp 3'