Canonical Allele Identifier: CA355110201

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503982T>G (hg19) ; chr3:g.165786194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786194T>G , CM000665.2:g.165786194T>G	GRCh38
NC_000003.11:g.165503982T>G , CM000665.1:g.165503982T>G	GRCh37
NC_000003.10:g.166986676T>G	NCBI36
NG_009031.1:g.56272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1635A>C MANE Select	ENSP00000264381.3:p.Gln545His
ENST00000264381.7:c.1635A>C	ENSP00000264381.3:p.Gln545His
ENST00000479451.5:c.225A>C	ENSP00000418325.1:p.Gln75His
ENST00000482958.1:c.*141A>C	ENSP00000419804.1:n.*141A>C
ENST00000488954.1:c.225A>C	ENSP00000418504.1:p.Gln75His
ENST00000497011.5:c.1635A>C	ENSP00000419505.1:p.Gln545His
NM_000055.2:c.1635A>C	NP_000046.1:p.Gln545His
XM_005247685.1:c.1758A>C	XP_005247742.1:p.Gln586His
NM_000055.3:c.1635A>C	NP_000046.1:p.Gln545His
NR_137635.1:n.277A>C
NR_137636.1:n.1802A>C
NM_000055.4:c.1635A>C MANE Select	NP_000046.1:p.Gln545His
NR_137635.2:n.228A>C
NR_137636.2:n.1753A>C