Canonical Allele Identifier: CA355110121

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503944A>G (hg19) ; chr3:g.165786156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786156A>G , CM000665.2:g.165786156A>G	GRCh38
NC_000003.11:g.165503944A>G , CM000665.1:g.165503944A>G	GRCh37
NC_000003.10:g.166986638A>G	NCBI36
NG_009031.1:g.56310T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1673T>C MANE Select	ENSP00000264381.3:p.Leu558Ser
ENST00000264381.7:c.1673T>C	ENSP00000264381.3:p.Leu558Ser
ENST00000479451.5:c.263T>C	ENSP00000418325.1:p.Leu88Ser
ENST00000482958.1:c.*179T>C	ENSP00000419804.1:n.*179T>C
ENST00000488954.1:c.263T>C	ENSP00000418504.1:p.Leu88Ser
ENST00000497011.5:c.1673T>C	ENSP00000419505.1:p.Leu558Ser
NM_000055.2:c.1673T>C	NP_000046.1:p.Leu558Ser
XM_005247685.1:c.1796T>C	XP_005247742.1:p.Leu599Ser
NM_000055.3:c.1673T>C	NP_000046.1:p.Leu558Ser
NR_137635.1:n.315T>C
NR_137636.1:n.1840T>C
NM_000055.4:c.1673T>C MANE Select	NP_000046.1:p.Leu558Ser
NR_137635.2:n.266T>C
NR_137636.2:n.1791T>C