Canonical Allele Identifier: CA594711862
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1396567328
gnomAD v2: 10-82034762-AG-A
gnomAD v3: 10-80275006-AG-A
gnomAD v4: 10-80275006-AG-A
MyVariant Identifiers: chr10:g.82034763del (hg19) chr10:g.80275007del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275011del , CM000672.2:g.80275011del GRCh38
NC_000010.10:g.82034767del , CM000672.1:g.82034767del GRCh37
NC_000010.9:g.82024747del NCBI36
NG_008083.1:g.19672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.951+10del MANE Select ENSP00000361287.3:n.951+10del
ENST00000372213.7:c.951+10del ENSP00000361287.3:n.951+10del
ENST00000480845.1:n.183+10del
ENST00000485270.5:n.463+10del
NM_000429.2:c.951+10del NP_000420.1:n.951+10del
XM_005269842.3:c.951+10del XP_005269899.1:n.951+10del
XM_005269843.3:c.828+10del XP_005269900.1:n.828+10del
NM_000429.3:c.951+10del MANE Select NP_000420.1:n.951+10del
Search 100 bp 5'
Search 100 bp 3'