Canonical Allele Identifier: CA377362824
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280285G>C , CM000672.2:g.80280285G>C GRCh38
NC_000010.10:g.82040041G>C , CM000672.1:g.82040041G>C GRCh37
NC_000010.9:g.82030021G>C NCBI36
NG_008083.1:g.14394C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.437C>G MANE Select ENSP00000361287.3:p.Thr146Arg
ENST00000372213.7:c.437C>G ENSP00000361287.3:p.Thr146Arg
ENST00000455001.1:c.248C>G ENSP00000414961.1:p.Thr83Arg
NM_000429.2:c.437C>G NP_000420.1:p.Thr146Arg
XM_005269842.3:c.437C>G XP_005269899.1:p.Thr146Arg
XM_005269843.3:c.314C>G XP_005269900.1:p.Thr105Arg
NM_000429.3:c.437C>G MANE Select NP_000420.1:p.Thr146Arg