Canonical Allele Identifier: CA594462906
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1426731248
gnomAD v2: 10-82040105-C-A
gnomAD v4: 10-80280349-C-A
MyVariant Identifiers: chr10:g.82040105C>A (hg19) chr10:g.80280349C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280349C>A , CM000672.2:g.80280349C>A GRCh38
NC_000010.10:g.82040105C>A , CM000672.1:g.82040105C>A GRCh37
NC_000010.9:g.82030085C>A NCBI36
NG_008083.1:g.14330G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.406-33G>T MANE Select ENSP00000361287.3:n.406-33G>T
ENST00000372213.7:c.406-33G>T ENSP00000361287.3:n.406-33G>T
ENST00000455001.1:c.217-33G>T ENSP00000414961.1:n.217-33G>T
NM_000429.2:c.406-33G>T NP_000420.1:n.406-33G>T
XM_005269842.3:c.406-33G>T XP_005269899.1:n.406-33G>T
XM_005269843.3:c.283-33G>T XP_005269900.1:n.283-33G>T
NM_000429.3:c.406-33G>T MANE Select NP_000420.1:n.406-33G>T
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