Canonical Allele Identifier: CA2244625098

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932341C= , CM000679.2:g.4932341C= GRCh38
NC_000017.10:g.4835636C= , CM000679.1:g.4835636C= GRCh37
NC_000017.9:g.4776416C= NCBI36
NG_008767.2:g.5047C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-31C= (GP1BA) MANE Select ENSP00000329380.5:n.-31C=
ENST00000649830.1:c.-888+2001G= (CHRNE) ENSP00000496907.1:n.-888+2001G=
ENST00000329125.5:c.-31C= (GP1BA) ENSP00000329380.5:n.-31C=
ENST00000611961.1:c.-31C= (GP1BA) ENSP00000484439.1:n.-31C=
NM_000173.6:c.-31C= (GP1BA) NP_000164.5:n.-31C=
NM_000173.7:c.-31C= (GP1BA) MANE Select NP_000164.5:n.-31C=