Canonical Allele Identifier: CA397318284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933323C>T , CM000679.2:g.4933323C>T GRCh38
NC_000017.10:g.4836618C>T , CM000679.1:g.4836618C>T GRCh37
NC_000017.9:g.4777398C>T NCBI36
NG_008767.2:g.6029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.719C>T (GP1BA) MANE Select ENSP00000329380.5:p.Ala240Val
ENST00000649830.1:c.-888+1019G>A (CHRNE) ENSP00000496907.1:n.-888+1019G>A
ENST00000329125.5:c.719C>T (GP1BA) ENSP00000329380.5:p.Ala240Val
ENST00000611961.1:c.719C>T (GP1BA) ENSP00000484439.1:p.Ala240Val
NM_000173.6:c.719C>T (GP1BA) NP_000164.5:p.Ala240Val
NM_000173.7:c.719C>T (GP1BA) MANE Select NP_000164.5:p.Ala240Val