Canonical Allele Identifier: CA377362885
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82040067C>G (hg19) chr10:g.80280311C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280311C>G , CM000672.2:g.80280311C>G GRCh38
NC_000010.10:g.82040067C>G , CM000672.1:g.82040067C>G GRCh37
NC_000010.9:g.82030047C>G NCBI36
NG_008083.1:g.14368G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.411G>C MANE Select ENSP00000361287.3:p.Leu137Phe
ENST00000372213.7:c.411G>C ENSP00000361287.3:p.Leu137Phe
ENST00000455001.1:c.222G>C ENSP00000414961.1:p.Leu74Phe
NM_000429.2:c.411G>C NP_000420.1:p.Leu137Phe
XM_005269842.3:c.411G>C XP_005269899.1:p.Leu137Phe
XM_005269843.3:c.288G>C XP_005269900.1:p.Leu96Phe
NM_000429.3:c.411G>C MANE Select NP_000420.1:p.Leu137Phe
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