Canonical Allele Identifier: CA377360023
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1841442667
gnomAD v4: 10-80273791-A-G
MyVariant Identifiers: chr10:g.82033547A>G (hg19) chr10:g.80273791A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273791A>G , CM000672.2:g.80273791A>G GRCh38
NC_000010.10:g.82033547A>G , CM000672.1:g.82033547A>G GRCh37
NC_000010.9:g.82023527A>G NCBI36
NG_008083.1:g.20888T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1178T>C MANE Select ENSP00000361287.3:p.Leu393Pro
ENST00000372213.7:c.1178T>C ENSP00000361287.3:p.Leu393Pro
ENST00000480845.1:n.410T>C
ENST00000485270.5:n.690T>C
NM_000429.2:c.1178T>C NP_000420.1:p.Leu393Pro
XM_005269842.3:c.1178T>C XP_005269899.1:p.Leu393Pro
XM_005269843.3:c.1055T>C XP_005269900.1:p.Leu352Pro
NM_000429.3:c.1178T>C MANE Select NP_000420.1:p.Leu393Pro
Search 100 bp 5'
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