Canonical Allele Identifier: CA992512090
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs916224878
gnomAD v3: 19-1401180-C-A
gnomAD v4: 19-1401180-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401180C>A , CM000681.2:g.1401180C>A GRCh38
NC_000019.9:g.1401179C>A , CM000681.1:g.1401179C>A GRCh37
NC_000019.8:g.1352179C>A NCBI36
NG_009785.1:g.5374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+116G>T MANE Select ENSP00000252288.1:n.181+116G>T
ENST00000447102.8:c.181+116G>T ENSP00000403536.2:n.181+116G>T
ENST00000640762.1:c.112+185G>T ENSP00000492031.1:n.112+185G>T
ENST00000252288.6:c.181+116G>T ENSP00000252288.1:n.181+116G>T
ENST00000447102.7:c.181+116G>T ENSP00000403536.2:n.181+116G>T
NM_000156.5:c.181+116G>T NP_000147.1:n.181+116G>T
NM_138924.2:c.181+116G>T NP_620279.1:n.181+116G>T
NM_000156.6:c.181+116G>T MANE Select NP_000147.1:n.181+116G>T
NM_138924.3:c.181+116G>T NP_620279.1:n.181+116G>T
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