Canonical Allele Identifier: CA397321920

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934053A>C , CM000679.2:g.4934053A>C GRCh38
NC_000017.10:g.4837348A>C , CM000679.1:g.4837348A>C GRCh37
NC_000017.9:g.4778089A>C NCBI36
NG_008767.2:g.6759A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1449A>C (GP1BA) MANE Select ENSP00000329380.5:p.Lys483Asn
ENST00000649830.1:c.-888+289T>G (CHRNE) ENSP00000496907.1:n.-888+289T>G
ENST00000329125.5:c.1449A>C (GP1BA) ENSP00000329380.5:p.Lys483Asn
ENST00000611961.1:c.1371A>C (GP1BA) ENSP00000484439.1:p.Lys457Asn
NM_000173.6:c.1449A>C (GP1BA) NP_000164.5:p.Lys483Asn
NM_000173.7:c.1449A>C (GP1BA) MANE Select NP_000164.5:p.Lys483Asn