Canonical Allele Identifier: CA87406617
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs4680662

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165798762A>C , CM000665.2:g.165798762A>C GRCh38
NC_000003.11:g.165516550A>C , CM000665.1:g.165516550A>C GRCh37
NC_000003.10:g.166999244A>C NCBI36
NG_009031.1:g.43704T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1518-12451T>G MANE Select ENSP00000264381.3:p.=
ENST00000264381.7:c.1518-12451T>G ENSP00000264381.3:p.=
ENST00000479451.5:n.108-12451T>G ENSP00000418325.1:p.=
ENST00000482958.1:c.*24-12451T>G ENSP00000419804.1:p.=
ENST00000488954.1:n.108-12451T>G ENSP00000418504.1:p.=
ENST00000497011.5:c.1518-12451T>G ENSP00000419505.1:p.=
NM_000055.2:c.1518-12451T>G NP_000046.1:p.=
XM_005247685.1:c.1641-12451T>G XP_005247742.1:p.=
NM_000055.3:c.1518-12451T>G NP_000046.1:p.=
NR_137635.1:n.160-12451T>G
NR_137636.1:n.1685-12451T>G
NM_000055.4:c.1518-12451T>G MANE Select NP_000046.1:p.=
NR_137635.2:n.111-12451T>G
NR_137636.2:n.1636-12451T>G