Canonical Allele Identifier: CA402998284
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401407-G-A
MyVariant Identifiers: chr19:g.1401406G>A (hg19) chr19:g.1401407G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401407G>A , CM000681.2:g.1401407G>A GRCh38
NC_000019.9:g.1401406G>A , CM000681.1:g.1401406G>A GRCh37
NC_000019.8:g.1352406G>A NCBI36
NG_009785.1:g.5147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.70C>T MANE Select ENSP00000252288.1:p.Pro24Ser
ENST00000447102.8:c.70C>T ENSP00000403536.2:p.Pro24Ser
ENST00000640762.1:c.70C>T ENSP00000492031.1:p.Pro24Ser
ENST00000252288.6:c.70C>T ENSP00000252288.1:p.Pro24Ser
ENST00000447102.7:c.70C>T ENSP00000403536.2:p.Pro24Ser
NM_000156.5:c.70C>T NP_000147.1:p.Pro24Ser
NM_138924.2:c.70C>T NP_620279.1:p.Pro24Ser
NM_000156.6:c.70C>T MANE Select NP_000147.1:p.Pro24Ser
NM_138924.3:c.70C>T NP_620279.1:p.Pro24Ser
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