Canonical Allele Identifier: CA355110455

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504097T>G (hg19) ; chr3:g.165786309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786309T>G , CM000665.2:g.165786309T>G	GRCh38
NC_000003.11:g.165504097T>G , CM000665.1:g.165504097T>G	GRCh37
NC_000003.10:g.166986791T>G	NCBI36
NG_009031.1:g.56157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1520A>C MANE Select	ENSP00000264381.3:p.Asn507Thr
ENST00000264381.7:c.1520A>C	ENSP00000264381.3:p.Asn507Thr
ENST00000479451.5:c.110A>C	ENSP00000418325.1:p.Asn37Thr
ENST00000482958.1:c.*26A>C	ENSP00000419804.1:n.*26A>C
ENST00000488954.1:c.110A>C	ENSP00000418504.1:p.Asn37Thr
ENST00000497011.5:c.1520A>C	ENSP00000419505.1:p.Asn507Thr
NM_000055.2:c.1520A>C	NP_000046.1:p.Asn507Thr
XM_005247685.1:c.1643A>C	XP_005247742.1:p.Asn548Thr
NM_000055.3:c.1520A>C	NP_000046.1:p.Asn507Thr
NR_137635.1:n.162A>C
NR_137636.1:n.1687A>C
NM_000055.4:c.1520A>C MANE Select	NP_000046.1:p.Asn507Thr
NR_137635.2:n.113A>C
NR_137636.2:n.1638A>C