Canonical Allele Identifier: CA992511611
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1192881636
gnomAD v3: 19-1399954-G-C
gnomAD v4: 19-1399954-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399954G>C , CM000681.2:g.1399954G>C GRCh38
NC_000019.9:g.1399953G>C , CM000681.1:g.1399953G>C GRCh37
NC_000019.8:g.1350953G>C NCBI36
NG_009785.1:g.6600C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-16C>G MANE Select ENSP00000252288.1:n.182-16C>G
ENST00000447102.8:c.182-16C>G ENSP00000403536.2:n.182-16C>G
ENST00000640762.1:c.113-16C>G ENSP00000492031.1:n.113-16C>G
ENST00000252288.6:c.182-16C>G ENSP00000252288.1:n.182-16C>G
ENST00000447102.7:c.182-16C>G ENSP00000403536.2:n.182-16C>G
NM_000156.5:c.182-16C>G NP_000147.1:n.182-16C>G
NM_138924.2:c.182-16C>G NP_620279.1:n.182-16C>G
NM_000156.6:c.182-16C>G MANE Select NP_000147.1:n.182-16C>G
NM_138924.3:c.182-16C>G NP_620279.1:n.182-16C>G
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