Canonical Allele Identifier: CA355114223

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491285T>A (hg19) ; chr3:g.165773497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773497T>A , CM000665.2:g.165773497T>A	GRCh38
NC_000003.11:g.165491285T>A , CM000665.1:g.165491285T>A	GRCh37
NC_000003.10:g.166973979T>A	NCBI36
NG_009031.1:g.68969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1694A>T MANE Select	ENSP00000264381.3:p.Asp565Val
ENST00000264381.7:c.1694A>T	ENSP00000264381.3:p.Asp565Val
ENST00000479451.5:c.284A>T	ENSP00000418325.1:p.Asp95Val
ENST00000482958.1:c.*200A>T	ENSP00000419804.1:n.*200A>T
ENST00000497011.5:c.*84A>T	ENSP00000419505.1:n.*84A>T
NM_000055.2:c.1694A>T	NP_000046.1:p.Asp565Val
XM_005247685.1:c.1817A>T	XP_005247742.1:p.Asp606Val
NM_000055.3:c.1694A>T	NP_000046.1:p.Asp565Val
NR_137635.1:n.336A>T
NR_137636.1:n.1940A>T
NM_000055.4:c.1694A>T MANE Select	NP_000046.1:p.Asp565Val
NR_137635.2:n.287A>T
NR_137636.2:n.1891A>T