Canonical Allele Identifier: CA5576604
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs756888546
ExAC: 10:82033673 G / GA
gnomAD v2: 10-82033673-G-GA
gnomAD v3: 10-80273917-G-GA
gnomAD v4: 10-80273917-G-GA
MyVariant Identifiers: chr10:g.82033673_82033674insA (hg19) chr10:g.80273917_80273918insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273918dup , CM000672.2:g.80273918dup GRCh38
NC_000010.10:g.82033674dup , CM000672.1:g.82033674dup GRCh37
NC_000010.9:g.82023654dup NCBI36
NG_008083.1:g.20761dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1086-35dup MANE Select ENSP00000361287.3:n.1086-35dup
ENST00000372213.7:c.1086-35dup ENSP00000361287.3:n.1086-35dup
ENST00000480845.1:n.318-35dup
ENST00000485270.5:n.598-35dup
NM_000429.2:c.1086-35dup NP_000420.1:n.1086-35dup
XM_005269842.3:c.1086-35dup XP_005269899.1:n.1086-35dup
XM_005269843.3:c.963-35dup XP_005269900.1:n.963-35dup
NM_000429.3:c.1086-35dup MANE Select NP_000420.1:n.1086-35dup
Search 100 bp 5'
Search 100 bp 3'