Canonical Allele Identifier: CA355114050

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165555133G>C (hg19) ; chr3:g.165837345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165837345G>C , CM000665.2:g.165837345G>C	GRCh38
NC_000003.11:g.165555133G>C , CM000665.1:g.165555133G>C	GRCh37
NC_000003.10:g.167037827G>C	NCBI36
NG_009031.1:g.5121C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.-40C>G MANE Select	ENSP00000264381.3:n.-40C>G
ENST00000264381.7:c.-40C>G	ENSP00000264381.3:n.-40C>G
ENST00000479451.5:c.76C>G	ENSP00000418325.1:p.Gln26Glu
ENST00000482958.1:c.-40C>G	ENSP00000419804.1:n.-40C>G
ENST00000488954.1:c.76C>G	ENSP00000418504.1:p.Gln26Glu
ENST00000497011.5:c.-40C>G	ENSP00000419505.1:n.-40C>G
NM_000055.2:c.-40C>G	NP_000046.1:n.-40C>G
XM_005247685.1:c.84C>G	XP_005247742.1:p.Cys28Trp
NM_000055.3:c.-40C>G	NP_000046.1:n.-40C>G
NR_137635.1:n.128C>G
NR_137636.1:n.128C>G
NM_000055.4:c.-40C>G MANE Select	NP_000046.1:n.-40C>G
NR_137635.2:n.79C>G
NR_137636.2:n.79C>G