Canonical Allele Identifier: CA930356892
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1841443830
gnomAD v3: 10-80273889-T-C
gnomAD v4: 10-80273889-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273889T>C , CM000672.2:g.80273889T>C GRCh38
NC_000010.10:g.82033645T>C , CM000672.1:g.82033645T>C GRCh37
NC_000010.9:g.82023625T>C NCBI36
NG_008083.1:g.20790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1086-6A>G MANE Select ENSP00000361287.3:n.1086-6A>G
ENST00000372213.7:c.1086-6A>G ENSP00000361287.3:n.1086-6A>G
ENST00000480845.1:n.318-6A>G
ENST00000485270.5:n.598-6A>G
NM_000429.2:c.1086-6A>G NP_000420.1:n.1086-6A>G
XM_005269842.3:c.1086-6A>G XP_005269899.1:n.1086-6A>G
XM_005269843.3:c.963-6A>G XP_005269900.1:n.963-6A>G
NM_000429.3:c.1086-6A>G MANE Select NP_000420.1:n.1086-6A>G
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