Canonical Allele Identifier: CA355113836

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491203G>T (hg19) ; chr3:g.165773415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773415G>T , CM000665.2:g.165773415G>T	GRCh38
NC_000003.11:g.165491203G>T , CM000665.1:g.165491203G>T	GRCh37
NC_000003.10:g.166973897G>T	NCBI36
NG_009031.1:g.69051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1776C>A MANE Select	ENSP00000264381.3:p.Tyr592Ter
ENST00000264381.7:c.1776C>A	ENSP00000264381.3:p.Tyr592Ter
ENST00000479451.5:c.366C>A	ENSP00000418325.1:p.Tyr122Ter
ENST00000482958.1:c.*282C>A	ENSP00000419804.1:n.*282C>A
ENST00000497011.5:c.*166C>A	ENSP00000419505.1:n.*166C>A
NM_000055.2:c.1776C>A	NP_000046.1:p.Tyr592Ter
XM_005247685.1:c.1899C>A	XP_005247742.1:p.Tyr633Ter
NM_000055.3:c.1776C>A	NP_000046.1:p.Tyr592Ter
NR_137635.1:n.418C>A
NR_137636.1:n.2022C>A
NM_000055.4:c.1776C>A MANE Select	NP_000046.1:p.Tyr592Ter
NR_137635.2:n.369C>A
NR_137636.2:n.1973C>A