Canonical Allele Identifier: CA397322035

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934093G>C , CM000679.2:g.4934093G>C GRCh38
NC_000017.10:g.4837388G>C , CM000679.1:g.4837388G>C GRCh37
NC_000017.9:g.4778129G>C NCBI36
NG_008767.2:g.6799G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1489G>C (GP1BA) MANE Select ENSP00000329380.5:p.Glu497Gln
ENST00000649830.1:c.-888+249C>G (CHRNE) ENSP00000496907.1:n.-888+249C>G
ENST00000329125.5:c.1489G>C (GP1BA) ENSP00000329380.5:p.Glu497Gln
ENST00000611961.1:c.1411G>C (GP1BA) ENSP00000484439.1:p.Glu471Gln
NM_000173.6:c.1489G>C (GP1BA) NP_000164.5:p.Glu497Gln
NM_000173.7:c.1489G>C (GP1BA) MANE Select NP_000164.5:p.Glu497Gln