Canonical Allele Identifier: CA397320817
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1597639885
gnomAD v4: 17-4933901-A-C
MyVariant Identifiers: chr17:g.4837196A>C (hg19) chr17:g.4933901A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933901A>C , CM000679.2:g.4933901A>C GRCh38
NC_000017.10:g.4837196A>C , CM000679.1:g.4837196A>C GRCh37
NG_008767.2:g.6607A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1297A>C (GP1BA) MANE Select ENSP00000329380.5:p.Ser433Arg
ENST00000649830.1:c.-888+441T>G (CHRNE) ENSP00000496907.1:n.-888+441T>G
ENST00000329125.5:c.1297A>C (GP1BA) ENSP00000329380.5:p.Ser433Arg
ENST00000611961.1:c.1272+25A>C (GP1BA) ENSP00000484439.1:n.1272+25A>C
NM_000173.6:c.1297A>C (GP1BA) NP_000164.5:p.Ser433Arg
NM_000173.7:c.1297A>C (GP1BA) MANE Select NP_000164.5:p.Ser433Arg
Search 100 bp 5'
Search 100 bp 3'