Canonical Allele Identifier: CA210327284
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs529348433
gnomAD v2: 10-82040250-G-C
gnomAD v3: 10-80280494-G-C
gnomAD v4: 10-80280494-G-C
MyVariant Identifiers: chr10:g.82040250G>C (hg19) chr10:g.80280494G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280494G>C , CM000672.2:g.80280494G>C GRCh38
NC_000010.10:g.82040250G>C , CM000672.1:g.82040250G>C GRCh37
NC_000010.9:g.82030230G>C NCBI36
NG_008083.1:g.14185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.406-178C>G MANE Select ENSP00000361287.3:n.406-178C>G
ENST00000372213.7:c.406-178C>G ENSP00000361287.3:n.406-178C>G
ENST00000455001.1:c.217-178C>G ENSP00000414961.1:n.217-178C>G
NM_000429.2:c.406-178C>G NP_000420.1:n.406-178C>G
XM_005269842.3:c.406-178C>G XP_005269899.1:n.406-178C>G
XM_005269843.3:c.283-178C>G XP_005269900.1:n.283-178C>G
NM_000429.3:c.406-178C>G MANE Select NP_000420.1:n.406-178C>G
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