Canonical Allele Identifier: CA402994416
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1398971-G-T
MyVariant Identifiers: chr19:g.1398970G>T (hg19) chr19:g.1398971G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398971G>T , CM000681.2:g.1398971G>T GRCh38
NC_000019.9:g.1398970G>T , CM000681.1:g.1398970G>T GRCh37
NC_000019.8:g.1349970G>T NCBI36
NG_009785.1:g.7583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.515C>A MANE Select ENSP00000252288.1:p.Thr172Asn
ENST00000447102.8:c.515C>A ENSP00000403536.2:p.Thr172Asn
ENST00000591788.3:c.198C>A
ENST00000640164.1:n.348C>A
ENST00000640762.1:c.446C>A ENSP00000492031.1:p.Thr149Asn
ENST00000252288.6:c.515C>A ENSP00000252288.1:p.Thr172Asn
ENST00000447102.7:c.515C>A ENSP00000403536.2:p.Thr172Asn
ENST00000591788.2:c.200C>A ENSP00000466341.2:p.Thr67Asn
NM_000156.5:c.515C>A NP_000147.1:p.Thr172Asn
NM_138924.2:c.515C>A NP_620279.1:p.Thr172Asn
NM_000156.6:c.515C>A MANE Select NP_000147.1:p.Thr172Asn
NM_138924.3:c.515C>A NP_620279.1:p.Thr172Asn
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