Canonical Allele Identifier: CA377361587
Community Standard Title: NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr)
Gene: MAT1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276389A>G , CM000672.2:g.80276389A>G GRCh38
NC_000010.10:g.82036145A>G , CM000672.1:g.82036145A>G GRCh37
NC_000010.9:g.82026125A>G NCBI36
NG_008083.1:g.18290T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000429.3:c.755T>C MANE Select NP_000420.1:p.Ile252Thr
ENST00000372213.8:c.755T>C MANE Select ENSP00000361287.3:p.Ile252Thr
NM_000429.2:c.755T>C NP_000420.1:p.Ile252Thr
ENST00000372213.7:c.755T>C ENSP00000361287.3:p.Ile252Thr
XM_005269842.3:c.755T>C XP_005269899.1:p.Ile252Thr
XM_005269843.3:c.632T>C XP_005269900.1:p.Ile211Thr
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