Canonical Allele Identifier: CA397317373

Linked Data

gnomAD v4: 17-4933171-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933171T>A , CM000679.2:g.4933171T>A GRCh38
NC_000017.10:g.4836466T>A , CM000679.1:g.4836466T>A GRCh37
NC_000017.9:g.4777246T>A NCBI36
NG_008767.2:g.5877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.567T>A (GP1BA) MANE Select ENSP00000329380.5:p.Asn189Lys
ENST00000649830.1:c.-888+1171A>T (CHRNE) ENSP00000496907.1:n.-888+1171A>T
ENST00000329125.5:c.567T>A (GP1BA) ENSP00000329380.5:p.Asn189Lys
ENST00000611961.1:c.567T>A (GP1BA) ENSP00000484439.1:p.Asn189Lys
NM_000173.6:c.567T>A (GP1BA) NP_000164.5:p.Asn189Lys
NM_000173.7:c.567T>A (GP1BA) MANE Select NP_000164.5:p.Asn189Lys