Canonical Allele Identifier: CA355113783

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491182A>C (hg19) ; chr3:g.165773394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773394A>C , CM000665.2:g.165773394A>C	GRCh38
NC_000003.11:g.165491182A>C , CM000665.1:g.165491182A>C	GRCh37
NC_000003.10:g.166973876A>C	NCBI36
NG_009031.1:g.69072T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1797T>G MANE Select	ENSP00000264381.3:p.Cys599Trp
ENST00000264381.7:c.1797T>G	ENSP00000264381.3:p.Cys599Trp
ENST00000479451.5:c.387T>G	ENSP00000418325.1:p.Cys129Trp
ENST00000482958.1:c.*303T>G	ENSP00000419804.1:n.*303T>G
ENST00000497011.5:c.*187T>G	ENSP00000419505.1:n.*187T>G
NM_000055.2:c.1797T>G	NP_000046.1:p.Cys599Trp
XM_005247685.1:c.1920T>G	XP_005247742.1:p.Cys640Trp
NM_000055.3:c.1797T>G	NP_000046.1:p.Cys599Trp
NR_137635.1:n.439T>G
NR_137636.1:n.2043T>G
NM_000055.4:c.1797T>G MANE Select	NP_000046.1:p.Cys599Trp
NR_137635.2:n.390T>G
NR_137636.2:n.1994T>G