Canonical Allele Identifier: CA2813256107
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401174C>G , CM000681.2:g.1401174C>G GRCh38
NC_000019.9:g.1401173C>G , CM000681.1:g.1401173C>G GRCh37
NC_000019.8:g.1352173C>G NCBI36
NG_009785.1:g.5380G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.181+122G>C MANE Select ENSP00000252288.1:n.181+122G>C
ENST00000447102.8:c.181+122G>C ENSP00000403536.2:n.181+122G>C
ENST00000640762.1:c.112+191G>C ENSP00000492031.1:n.112+191G>C
ENST00000252288.6:c.181+122G>C ENSP00000252288.1:n.181+122G>C
ENST00000447102.7:c.181+122G>C ENSP00000403536.2:n.181+122G>C
NM_000156.5:c.181+122G>C NP_000147.1:n.181+122G>C
NM_138924.2:c.181+122G>C NP_620279.1:n.181+122G>C
NM_000156.6:c.181+122G>C MANE Select NP_000147.1:n.181+122G>C
NM_138924.3:c.181+122G>C NP_620279.1:n.181+122G>C
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