Canonical Allele Identifier: CA397322051

Linked Data

gnomAD v4: 17-4934100-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934100A>G , CM000679.2:g.4934100A>G GRCh38
NC_000017.10:g.4837395A>G , CM000679.1:g.4837395A>G GRCh37
NC_000017.9:g.4778136A>G NCBI36
NG_008767.2:g.6806A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1496A>G (GP1BA) MANE Select ENSP00000329380.5:p.Asp499Gly
ENST00000649830.1:c.-888+242T>C (CHRNE) ENSP00000496907.1:n.-888+242T>C
ENST00000329125.5:c.1496A>G (GP1BA) ENSP00000329380.5:p.Asp499Gly
ENST00000611961.1:c.1418A>G (GP1BA) ENSP00000484439.1:p.Asp473Gly
NM_000173.6:c.1496A>G (GP1BA) NP_000164.5:p.Asp499Gly
NM_000173.7:c.1496A>G (GP1BA) MANE Select NP_000164.5:p.Asp499Gly