Canonical Allele Identifier: CA397320700

Linked Data

gnomAD v4: 17-4933869-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933869C>A , CM000679.2:g.4933869C>A GRCh38
NC_000017.10:g.4837164C>A , CM000679.1:g.4837164C>A GRCh37
NC_000017.9:g.4777944C>A NCBI36
NG_008767.2:g.6575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1265C>A (GP1BA) MANE Select ENSP00000329380.5:p.Thr422Asn
ENST00000649830.1:c.-888+473G>T (CHRNE) ENSP00000496907.1:n.-888+473G>T
ENST00000329125.5:c.1265C>A (GP1BA) ENSP00000329380.5:p.Thr422Asn
ENST00000611961.1:c.1265C>A (GP1BA) ENSP00000484439.1:p.Thr422Asn
NM_000173.6:c.1265C>A (GP1BA) NP_000164.5:p.Thr422Asn
NM_000173.7:c.1265C>A (GP1BA) MANE Select NP_000164.5:p.Thr422Asn