Canonical Allele Identifier: CA2244625648
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933633T= , CM000679.2:g.4933633T= GRCh38
NC_000017.10:g.4836928T= , CM000679.1:g.4836928T= GRCh37
NC_000017.9:g.4777708T= NCBI36
NG_008767.2:g.6339T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1029T= (GP1BA) MANE Select ENSP00000329380.5:p.His343=
ENST00000649830.1:c.-888+709A= (CHRNE) ENSP00000496907.1:n.-888+709A=
ENST00000329125.5:c.1029T= (GP1BA) ENSP00000329380.5:p.His343=
ENST00000611961.1:c.1029T= (GP1BA) ENSP00000484439.1:p.His343=
NM_000173.6:c.1029T= (GP1BA) NP_000164.5:p.His343=
NM_000173.7:c.1029T= (GP1BA) MANE Select NP_000164.5:p.His343=
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