Canonical Allele Identifier: CA2635577947
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4932350-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932350G>A , CM000679.2:g.4932350G>A GRCh38
NC_000017.10:g.4835645G>A , CM000679.1:g.4835645G>A GRCh37
NC_000017.9:g.4776425G>A NCBI36
NG_008767.2:g.5056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-22G>A (GP1BA) MANE Select ENSP00000329380.5:n.-22G>A
ENST00000649830.1:c.-888+1992C>T (CHRNE) ENSP00000496907.1:n.-888+1992C>T
ENST00000329125.5:c.-22G>A (GP1BA) ENSP00000329380.5:n.-22G>A
ENST00000611961.1:c.-22G>A (GP1BA) ENSP00000484439.1:n.-22G>A
NM_000173.6:c.-22G>A (GP1BA) NP_000164.5:n.-22G>A
NM_000173.7:c.-22G>A (GP1BA) MANE Select NP_000164.5:n.-22G>A
Search 100 bp 5'
Search 100 bp 3'