Canonical Allele Identifier: CA594462913
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1250722657
gnomAD v2: 10-82040267-A-G
gnomAD v3: 10-80280511-A-G
gnomAD v4: 10-80280511-A-G
MyVariant Identifiers: chr10:g.82040267A>G (hg19) chr10:g.80280511A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280511A>G , CM000672.2:g.80280511A>G GRCh38
NC_000010.10:g.82040267A>G , CM000672.1:g.82040267A>G GRCh37
NC_000010.9:g.82030247A>G NCBI36
NG_008083.1:g.14168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.405+169T>C MANE Select ENSP00000361287.3:n.405+169T>C
ENST00000372213.7:c.405+169T>C ENSP00000361287.3:n.405+169T>C
ENST00000455001.1:c.216+169T>C ENSP00000414961.1:n.216+169T>C
NM_000429.2:c.405+169T>C NP_000420.1:n.405+169T>C
XM_005269842.3:c.405+169T>C XP_005269899.1:n.405+169T>C
XM_005269843.3:c.282+169T>C XP_005269900.1:n.282+169T>C
NM_000429.3:c.405+169T>C MANE Select NP_000420.1:n.405+169T>C
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