Canonical Allele Identifier: CA355111834
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830136T>A , CM000665.2:g.165830136T>A GRCh38
NC_000003.11:g.165547924T>A , CM000665.1:g.165547924T>A GRCh37
NC_000003.10:g.167030618T>A NCBI36
NG_009031.1:g.12330A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.898A>T MANE Select ENSP00000264381.3:p.Ile300Phe
ENST00000264381.7:c.898A>T ENSP00000264381.3:p.Ile300Phe
ENST00000479451.5:n.107+7178A>T ENSP00000418325.1:n.107+7178A>T
ENST00000482958.1:c.898A>T ENSP00000419804.1:p.Ile300Phe
ENST00000488954.1:n.107+7178A>T ENSP00000418504.1:n.107+7178A>T
ENST00000497011.5:c.898A>T ENSP00000419505.1:p.Ile300Phe
NM_000055.2:c.898A>T NP_000046.1:p.Ile300Phe
XM_005247685.1:c.1021A>T XP_005247742.1:p.Ile341Phe
NM_000055.3:c.898A>T NP_000046.1:p.Ile300Phe
NR_137635.1:n.159+7178A>T
NR_137636.1:n.1065A>T
NM_000055.4:c.898A>T MANE Select NP_000046.1:p.Ile300Phe
NR_137635.2:n.110+7178A>T
NR_137636.2:n.1016A>T