Canonical Allele Identifier: CA355113796

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491187T>G (hg19) ; chr3:g.165773399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773399T>G , CM000665.2:g.165773399T>G	GRCh38
NC_000003.11:g.165491187T>G , CM000665.1:g.165491187T>G	GRCh37
NC_000003.10:g.166973881T>G	NCBI36
NG_009031.1:g.69067A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1792A>C MANE Select	ENSP00000264381.3:p.Ser598Arg
ENST00000264381.7:c.1792A>C	ENSP00000264381.3:p.Ser598Arg
ENST00000479451.5:c.382A>C	ENSP00000418325.1:p.Ser128Arg
ENST00000482958.1:c.*298A>C	ENSP00000419804.1:n.*298A>C
ENST00000497011.5:c.*182A>C	ENSP00000419505.1:n.*182A>C
NM_000055.2:c.1792A>C	NP_000046.1:p.Ser598Arg
XM_005247685.1:c.1915A>C	XP_005247742.1:p.Ser639Arg
NM_000055.3:c.1792A>C	NP_000046.1:p.Ser598Arg
NR_137635.1:n.434A>C
NR_137636.1:n.2038A>C
NM_000055.4:c.1792A>C MANE Select	NP_000046.1:p.Ser598Arg
NR_137635.2:n.385A>C
NR_137636.2:n.1989A>C