Canonical Allele Identifier: CA397318212

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933311T>A , CM000679.2:g.4933311T>A GRCh38
NC_000017.10:g.4836606T>A , CM000679.1:g.4836606T>A GRCh37
NC_000017.9:g.4777386T>A NCBI36
NG_008767.2:g.6017T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.707T>A (GP1BA) MANE Select ENSP00000329380.5:p.Leu236Gln
ENST00000649830.1:c.-888+1031A>T (CHRNE) ENSP00000496907.1:n.-888+1031A>T
ENST00000329125.5:c.707T>A (GP1BA) ENSP00000329380.5:p.Leu236Gln
ENST00000611961.1:c.707T>A (GP1BA) ENSP00000484439.1:p.Leu236Gln
NM_000173.6:c.707T>A (GP1BA) NP_000164.5:p.Leu236Gln
NM_000173.7:c.707T>A (GP1BA) MANE Select NP_000164.5:p.Leu236Gln