Canonical Allele Identifier: CA355110232

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503999T>A (hg19) ; chr3:g.165786211T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786211T>A , CM000665.2:g.165786211T>A	GRCh38
NC_000003.11:g.165503999T>A , CM000665.1:g.165503999T>A	GRCh37
NC_000003.10:g.166986693T>A	NCBI36
NG_009031.1:g.56255A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1618A>T MANE Select	ENSP00000264381.3:p.Thr540Ser
ENST00000264381.7:c.1618A>T	ENSP00000264381.3:p.Thr540Ser
ENST00000479451.5:c.208A>T	ENSP00000418325.1:p.Thr70Ser
ENST00000482958.1:c.*124A>T	ENSP00000419804.1:n.*124A>T
ENST00000488954.1:c.208A>T	ENSP00000418504.1:p.Thr70Ser
ENST00000497011.5:c.1618A>T	ENSP00000419505.1:p.Thr540Ser
NM_000055.2:c.1618A>T	NP_000046.1:p.Thr540Ser
XM_005247685.1:c.1741A>T	XP_005247742.1:p.Thr581Ser
NM_000055.3:c.1618A>T	NP_000046.1:p.Thr540Ser
NR_137635.1:n.260A>T
NR_137636.1:n.1785A>T
NM_000055.4:c.1618A>T MANE Select	NP_000046.1:p.Thr540Ser
NR_137635.2:n.211A>T
NR_137636.2:n.1736A>T