Canonical Allele Identifier: CA355113848

Gene: BCHE

Linked Data

• dbSNP Id: rs749814210
• gnomAD v2: 3-165491208-C-A
• MyVariant Identifiers: chr3:g.165491208C>A (hg19) ; chr3:g.165773420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773420C>A , CM000665.2:g.165773420C>A	GRCh38
NC_000003.11:g.165491208C>A , CM000665.1:g.165491208C>A	GRCh37
NC_000003.10:g.166973902C>A	NCBI36
NG_009031.1:g.69046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1771G>T MANE Select	ENSP00000264381.3:p.Asp591Tyr
ENST00000264381.7:c.1771G>T	ENSP00000264381.3:p.Asp591Tyr
ENST00000479451.5:c.361G>T	ENSP00000418325.1:p.Asp121Tyr
ENST00000482958.1:c.*277G>T	ENSP00000419804.1:n.*277G>T
ENST00000497011.5:c.*161G>T	ENSP00000419505.1:n.*161G>T
NM_000055.2:c.1771G>T	NP_000046.1:p.Asp591Tyr
XM_005247685.1:c.1894G>T	XP_005247742.1:p.Asp632Tyr
NM_000055.3:c.1771G>T	NP_000046.1:p.Asp591Tyr
NR_137635.1:n.413G>T
NR_137636.1:n.2017G>T
NM_000055.4:c.1771G>T MANE Select	NP_000046.1:p.Asp591Tyr
NR_137635.2:n.364G>T
NR_137636.2:n.1968G>T