Canonical Allele Identifier: CA287215448
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs576387753
gnomAD v3: 17-4932513-G-A
gnomAD v4: 17-4932513-G-A
MyVariant Identifiers: chr17:g.4835808G>A (hg19) chr17:g.4932513G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932513G>A , CM000679.2:g.4932513G>A GRCh38
NC_000017.10:g.4835808G>A , CM000679.1:g.4835808G>A GRCh37
NC_000017.9:g.4776588G>A NCBI36
NG_008767.2:g.5219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-6-86G>A (GP1BA) MANE Select ENSP00000329380.5:n.-6-86G>A
ENST00000649830.1:c.-888+1829C>T (CHRNE) ENSP00000496907.1:n.-888+1829C>T
ENST00000329125.5:c.-6-86G>A (GP1BA) ENSP00000329380.5:n.-6-86G>A
ENST00000611961.1:c.-6-86G>A (GP1BA) ENSP00000484439.1:n.-6-86G>A
NM_000173.6:c.-6-86G>A (GP1BA) NP_000164.5:n.-6-86G>A
NM_000173.7:c.-6-86G>A (GP1BA) MANE Select NP_000164.5:n.-6-86G>A
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