Canonical Allele Identifier: CA397317401

Linked Data

gnomAD v4: 17-4933175-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933175G>C , CM000679.2:g.4933175G>C GRCh38
NC_000017.10:g.4836470G>C , CM000679.1:g.4836470G>C GRCh37
NC_000017.9:g.4777250G>C NCBI36
NG_008767.2:g.5881G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.571G>C (GP1BA) MANE Select ENSP00000329380.5:p.Asp191His
ENST00000649830.1:c.-888+1167C>G (CHRNE) ENSP00000496907.1:n.-888+1167C>G
ENST00000329125.5:c.571G>C (GP1BA) ENSP00000329380.5:p.Asp191His
ENST00000611961.1:c.571G>C (GP1BA) ENSP00000484439.1:p.Asp191His
NM_000173.6:c.571G>C (GP1BA) NP_000164.5:p.Asp191His
NM_000173.7:c.571G>C (GP1BA) MANE Select NP_000164.5:p.Asp191His