Canonical Allele Identifier: CA2692351
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs753746052

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829788C>T , CM000665.2:g.165829788C>T GRCh38
NC_000003.11:g.165547576C>T , CM000665.1:g.165547576C>T GRCh37
NC_000003.10:g.167030270C>T NCBI36
NG_009031.1:g.12678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1246G>A MANE Select ENSP00000264381.3:p.Ala416Thr
ENST00000264381.7:c.1246G>A ENSP00000264381.3:p.Ala416Thr
ENST00000479451.5:c.107+7526G>A ENSP00000418325.1:n.107+7526G>A
ENST00000482958.1:c.1246G>A ENSP00000419804.1:p.Ala416Thr
ENST00000488954.1:c.107+7526G>A ENSP00000418504.1:n.107+7526G>A
ENST00000497011.5:c.1246G>A ENSP00000419505.1:p.Ala416Thr
NM_000055.2:c.1246G>A NP_000046.1:p.Ala416Thr
XM_005247685.1:c.1369G>A XP_005247742.1:p.Ala457Thr
NM_000055.3:c.1246G>A NP_000046.1:p.Ala416Thr
NR_137635.1:n.159+7526G>A
NR_137636.1:n.1413G>A
NM_000055.4:c.1246G>A MANE Select NP_000046.1:p.Ala416Thr
NR_137635.2:n.110+7526G>A
NR_137636.2:n.1364G>A