Canonical Allele Identifier: CA452986743
Gene: MAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159907588C>A , CM000668.2:g.159907588C>A GRCh38
NC_000006.11:g.160328620C>A , CM000668.1:g.160328620C>A GRCh37
NC_000006.10:g.160248610C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000674077.2:c.633C>A MANE Select ENSP00000501180.2:p.Val211=
ENST00000252660.5:c.633C>A ENSP00000252660.4:p.Val211=
NM_002377.2:c.633C>A NP_002368.1:p.Val211=
NM_001366704.1:c.633C>A NP_001353633.1:p.Val211=
NM_002377.3:c.633C>A NP_002368.1:p.Val211=
NM_002377.4:c.633C>A MANE Select NP_002368.1:p.Val211=
NM_001366704.2:c.633C>A NP_001353633.1:p.Val211=