Canonical Allele Identifier: CA504730088
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399152-G-A
MyVariant Identifiers: chr19:g.1399151G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399152G>A , CM000681.2:g.1399152G>A GRCh38
NC_000019.9:g.1399151G>A , CM000681.1:g.1399151G>A GRCh37
NC_000019.8:g.1350151G>A NCBI36
NG_009785.1:g.7402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.435C>T MANE Select ENSP00000252288.1:p.His145=
ENST00000447102.8:c.435C>T ENSP00000403536.2:p.His145=
ENST00000591788.3:c.118C>T
ENST00000640164.1:n.268C>T
ENST00000640762.1:c.366C>T ENSP00000492031.1:p.His122=
ENST00000252288.6:c.435C>T ENSP00000252288.1:p.His145=
ENST00000447102.7:c.435C>T ENSP00000403536.2:p.His145=
ENST00000591788.2:c.120C>T ENSP00000466341.2:p.His40=
NM_000156.5:c.435C>T NP_000147.1:p.His145=
NM_138924.2:c.435C>T NP_620279.1:p.His145=
NM_000156.6:c.435C>T MANE Select NP_000147.1:p.His145=
NM_138924.3:c.435C>T NP_620279.1:p.His145=
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