Canonical Allele Identifier: CA377361618
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82036150A>C (hg19) chr10:g.80276394A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276394A>C , CM000672.2:g.80276394A>C GRCh38
NC_000010.10:g.82036150A>C , CM000672.1:g.82036150A>C GRCh37
NC_000010.9:g.82026130A>C NCBI36
NG_008083.1:g.18285T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.750T>G MANE Select ENSP00000361287.3:p.Phe250Leu
ENST00000372213.7:c.750T>G ENSP00000361287.3:p.Phe250Leu
NM_000429.2:c.750T>G NP_000420.1:p.Phe250Leu
XM_005269842.3:c.750T>G XP_005269899.1:p.Phe250Leu
XM_005269843.3:c.627T>G XP_005269900.1:p.Phe209Leu
NM_000429.3:c.750T>G MANE Select NP_000420.1:p.Phe250Leu
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