Canonical Allele Identifier: CA2574455568
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276328C>T , CM000672.2:g.80276328C>T GRCh38
NC_000010.10:g.82036084C>T , CM000672.1:g.82036084C>T GRCh37
NC_000010.9:g.82026064C>T NCBI36
NG_008083.1:g.18351G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.768+48G>A MANE Select ENSP00000361287.3:n.768+48G>A
ENST00000372213.7:c.768+48G>A ENSP00000361287.3:n.768+48G>A
NM_000429.2:c.768+48G>A NP_000420.1:n.768+48G>A
XM_005269842.3:c.768+48G>A XP_005269899.1:n.768+48G>A
XM_005269843.3:c.645+48G>A XP_005269900.1:n.645+48G>A
NM_000429.3:c.768+48G>A MANE Select NP_000420.1:n.768+48G>A