Canonical Allele Identifier: CA355114068

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165555138G>T (hg19) ; chr3:g.165837350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165837350G>T , CM000665.2:g.165837350G>T	GRCh38
NC_000003.11:g.165555138G>T , CM000665.1:g.165555138G>T	GRCh37
NC_000003.10:g.167037832G>T	NCBI36
NG_009031.1:g.5116C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.-45C>A MANE Select	ENSP00000264381.3:n.-45C>A
ENST00000264381.7:c.-45C>A	ENSP00000264381.3:n.-45C>A
ENST00000479451.5:c.71C>A	ENSP00000418325.1:p.Ser24Tyr
ENST00000482958.1:c.-45C>A	ENSP00000419804.1:n.-45C>A
ENST00000488954.1:c.71C>A	ENSP00000418504.1:p.Ser24Tyr
ENST00000497011.5:c.-45C>A	ENSP00000419505.1:n.-45C>A
NM_000055.2:c.-45C>A	NP_000046.1:n.-45C>A
XM_005247685.1:c.79C>A	XP_005247742.1:p.Pro27Thr
NM_000055.3:c.-45C>A	NP_000046.1:n.-45C>A
NR_137635.1:n.123C>A
NR_137636.1:n.123C>A
NM_000055.4:c.-45C>A MANE Select	NP_000046.1:n.-45C>A
NR_137635.2:n.74C>A
NR_137636.2:n.74C>A