Canonical Allele Identifier: CA377361878
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1163280528
gnomAD v2: 10-82036198-C-G
MyVariant Identifiers: chr10:g.82036198C>G (hg19) chr10:g.80276442C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276442C>G , CM000672.2:g.80276442C>G GRCh38
NC_000010.10:g.82036198C>G , CM000672.1:g.82036198C>G GRCh37
NC_000010.9:g.82026178C>G NCBI36
NG_008083.1:g.18237G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.702G>C MANE Select ENSP00000361287.3:p.Lys234Asn
ENST00000372213.7:c.702G>C ENSP00000361287.3:p.Lys234Asn
NM_000429.2:c.702G>C NP_000420.1:p.Lys234Asn
XM_005269842.3:c.702G>C XP_005269899.1:p.Lys234Asn
XM_005269843.3:c.579G>C XP_005269900.1:p.Lys193Asn
NM_000429.3:c.702G>C MANE Select NP_000420.1:p.Lys234Asn
Search 100 bp 5'
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