Canonical Allele Identifier: CA2244625124

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932401C= , CM000679.2:g.4932401C= GRCh38
NC_000017.10:g.4835696C= , CM000679.1:g.4835696C= GRCh37
NC_000017.9:g.4776476C= NCBI36
NG_008767.2:g.5107C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-7+36C= (GP1BA) MANE Select ENSP00000329380.5:n.-7+36C=
ENST00000649830.1:c.-888+1941G= (CHRNE) ENSP00000496907.1:n.-888+1941G=
ENST00000329125.5:c.-7+36C= (GP1BA) ENSP00000329380.5:n.-7+36C=
ENST00000611961.1:c.-7+36C= (GP1BA) ENSP00000484439.1:n.-7+36C=
NM_000173.6:c.-7+36C= (GP1BA) NP_000164.5:n.-7+36C=
NM_000173.7:c.-7+36C= (GP1BA) MANE Select NP_000164.5:n.-7+36C=