Canonical Allele Identifier: CA1427297889
Gene: MASP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.187219412T= , CM000665.2:g.187219412T= GRCh38
NC_000003.11:g.186937200T= , CM000665.1:g.186937200T= GRCh37
NC_000003.10:g.188419894T= NCBI36
NG_029440.1:g.77611A= , LRG_349:g.77611A=

Transcript Alleles

HGVS Amino-acid Change
NM_001879.6:c.*659A= MANE Plus Clinical NP_001870.3:n.*659A=
ENST00000337774.10:c.*659A= MANE Plus Clinical ENSP00000336792.5:n.*659A=
NM_001879.5:c.*659A= , LRG_349t2:c.*659A= NP_001870.3:n.*659A=
ENST00000337774.9:c.*659A= ENSP00000336792.5:n.*659A=