Canonical Allele Identifier: CA377360584
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275039A>C , CM000672.2:g.80275039A>C GRCh38
NC_000010.10:g.82034795A>C , CM000672.1:g.82034795A>C GRCh37
NC_000010.9:g.82024775A>C NCBI36
NG_008083.1:g.19640T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.929T>G MANE Select ENSP00000361287.3:p.Leu310Arg
ENST00000372213.7:c.929T>G ENSP00000361287.3:p.Leu310Arg
ENST00000480845.1:n.161T>G
ENST00000485270.5:n.441T>G
NM_000429.2:c.929T>G NP_000420.1:p.Leu310Arg
XM_005269842.3:c.929T>G XP_005269899.1:p.Leu310Arg
XM_005269843.3:c.806T>G XP_005269900.1:p.Leu269Arg
NM_000429.3:c.929T>G MANE Select NP_000420.1:p.Leu310Arg