Canonical Allele Identifier: CA397319206

Linked Data

gnomAD v4: 17-4933514-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933514A>C , CM000679.2:g.4933514A>C GRCh38
NC_000017.10:g.4836809A>C , CM000679.1:g.4836809A>C GRCh37
NC_000017.9:g.4777589A>C NCBI36
NG_008767.2:g.6220A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.910A>C (GP1BA) MANE Select ENSP00000329380.5:p.Lys304Gln
ENST00000649830.1:c.-888+828T>G (CHRNE) ENSP00000496907.1:n.-888+828T>G
ENST00000329125.5:c.910A>C (GP1BA) ENSP00000329380.5:p.Lys304Gln
ENST00000611961.1:c.910A>C (GP1BA) ENSP00000484439.1:p.Lys304Gln
NM_000173.6:c.910A>C (GP1BA) NP_000164.5:p.Lys304Gln
NM_000173.7:c.910A>C (GP1BA) MANE Select NP_000164.5:p.Lys304Gln