Canonical Allele Identifier: CA1033075056
Gene: MAT2A HGNC NCBI

Linked Data

dbSNP Id: rs1691447905
gnomAD v3: 2-85540526-G-C
gnomAD v4: 2-85540526-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85540526G>C , CM000664.2:g.85540526G>C GRCh38
NC_000002.11:g.85767649G>C , CM000664.1:g.85767649G>C GRCh37
NC_000002.10:g.85621160G>C NCBI36
NG_029183.1:g.6549G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306434.8:c.92-557G>C MANE Select ENSP00000303147.3:n.92-557G>C
ENST00000306434.7:c.92-557G>C ENSP00000303147.3:n.92-557G>C
ENST00000409017.1:c.-99+526G>C ENSP00000386353.1:n.-99+526G>C
ENST00000465151.5:n.212-557G>C
ENST00000469221.5:n.212-557G>C
ENST00000481412.5:n.70-557G>C
NM_005911.5:c.92-557G>C NP_005902.1:n.92-557G>C
NM_005911.6:c.92-557G>C MANE Select NP_005902.1:n.92-557G>C
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