Canonical Allele Identifier: CA2244625355

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932908C= , CM000679.2:g.4932908C= GRCh38
NC_000017.10:g.4836203C= , CM000679.1:g.4836203C= GRCh37
NC_000017.9:g.4776983C= NCBI36
NG_008767.2:g.5614C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.304C= (GP1BA) MANE Select ENSP00000329380.5:p.His102=
ENST00000649830.1:c.-888+1434G= (CHRNE) ENSP00000496907.1:n.-888+1434G=
ENST00000329125.5:c.304C= (GP1BA) ENSP00000329380.5:p.His102=
ENST00000611961.1:c.304C= (GP1BA) ENSP00000484439.1:p.His102=
NM_000173.6:c.304C= (GP1BA) NP_000164.5:p.His102=
NM_000173.7:c.304C= (GP1BA) MANE Select NP_000164.5:p.His102=