Canonical Allele Identifier: CA304066069
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs113246280
MyVariant Identifiers: chr19:g.1399126C>G (hg19) chr19:g.1399127C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399127C>G , CM000681.2:g.1399127C>G GRCh38
NC_000019.9:g.1399126C>G , CM000681.1:g.1399126C>G GRCh37
NC_000019.8:g.1350126C>G NCBI36
NG_009785.1:g.7427G>C

Transcript Alleles

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