Canonical Allele Identifier: CA992513661
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082617730
gnomAD v3: 19-1399054-G-A
gnomAD v4: 19-1399054-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399054G>A , CM000681.2:g.1399054G>A GRCh38
NC_000019.9:g.1399053G>A , CM000681.1:g.1399053G>A GRCh37
NC_000019.8:g.1350053G>A NCBI36
NG_009785.1:g.7500C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.460-28C>T MANE Select ENSP00000252288.1:n.460-28C>T
ENST00000447102.8:c.460-28C>T ENSP00000403536.2:n.460-28C>T
ENST00000591788.3:c.143-28C>T
ENST00000640164.1:n.293-28C>T
ENST00000640762.1:c.391-28C>T ENSP00000492031.1:n.391-28C>T
ENST00000252288.6:c.460-28C>T ENSP00000252288.1:n.460-28C>T
ENST00000447102.7:c.460-28C>T ENSP00000403536.2:n.460-28C>T
ENST00000591788.2:c.145-28C>T ENSP00000466341.2:n.145-28C>T
NM_000156.5:c.460-28C>T NP_000147.1:n.460-28C>T
NM_138924.2:c.460-28C>T NP_620279.1:n.460-28C>T
NM_000156.6:c.460-28C>T MANE Select NP_000147.1:n.460-28C>T
NM_138924.3:c.460-28C>T NP_620279.1:n.460-28C>T
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