Canonical Allele Identifier: CA5576706
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 877695
ClinVar RCV Id: RCV001103622
dbSNP Id: rs778665724
ExAC: 10:82034968 A / G
gnomAD v2: 10-82034968-A-G
gnomAD v4: 10-80275212-A-G
MyVariant Identifiers: chr10:g.82034968A>G (hg19) chr10:g.80275212A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275212A>G , CM000672.2:g.80275212A>G GRCh38
NC_000010.10:g.82034968A>G , CM000672.1:g.82034968A>G GRCh37
NC_000010.9:g.82024948A>G NCBI36
NG_008083.1:g.19467T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-13T>C MANE Select ENSP00000361287.3:n.769-13T>C
ENST00000372213.7:c.769-13T>C ENSP00000361287.3:n.769-13T>C
ENST00000485270.5:n.268T>C
NM_000429.2:c.769-13T>C NP_000420.1:n.769-13T>C
XM_005269842.3:c.769-13T>C XP_005269899.1:n.769-13T>C
XM_005269843.3:c.646-13T>C XP_005269900.1:n.646-13T>C
NM_000429.3:c.769-13T>C MANE Select NP_000420.1:n.769-13T>C
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