Canonical Allele Identifier: CA436968925
Gene: BCHE HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.165547922A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830134A>G , CM000665.2:g.165830134A>G GRCh38
NC_000003.11:g.165547922A>G , CM000665.1:g.165547922A>G GRCh37
NC_000003.10:g.167030616A>G NCBI36
NG_009031.1:g.12332T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.900T>C MANE Select ENSP00000264381.3:p.Ile300=
ENST00000264381.7:c.900T>C ENSP00000264381.3:p.Ile300=
ENST00000479451.5:n.107+7180T>C ENSP00000418325.1:n.107+7180T>C
ENST00000482958.1:c.900T>C ENSP00000419804.1:p.Ile300=
ENST00000488954.1:n.107+7180T>C ENSP00000418504.1:n.107+7180T>C
ENST00000497011.5:c.900T>C ENSP00000419505.1:p.Ile300=
NM_000055.2:c.900T>C NP_000046.1:p.Ile300=
XM_005247685.1:c.1023T>C XP_005247742.1:p.Ile341=
NM_000055.3:c.900T>C NP_000046.1:p.Ile300=
NR_137635.1:n.159+7180T>C
NR_137636.1:n.1067T>C
NM_000055.4:c.900T>C MANE Select NP_000046.1:p.Ile300=
NR_137635.2:n.110+7180T>C
NR_137636.2:n.1018T>C