Canonical Allele Identifier: CA355114057

Gene: BCHE

Linked Data

• gnomAD v4: 3-165837347-A-G
• MyVariant Identifiers: chr3:g.165555135A>G (hg19) ; chr3:g.165837347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165837347A>G , CM000665.2:g.165837347A>G	GRCh38
NC_000003.11:g.165555135A>G , CM000665.1:g.165555135A>G	GRCh37
NC_000003.10:g.167037829A>G	NCBI36
NG_009031.1:g.5119T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.-42T>C MANE Select	ENSP00000264381.3:n.-42T>C
ENST00000264381.7:c.-42T>C	ENSP00000264381.3:n.-42T>C
ENST00000479451.5:c.74T>C	ENSP00000418325.1:p.Leu25Ser
ENST00000482958.1:c.-42T>C	ENSP00000419804.1:n.-42T>C
ENST00000488954.1:c.74T>C	ENSP00000418504.1:p.Leu25Ser
ENST00000497011.5:c.-42T>C	ENSP00000419505.1:n.-42T>C
NM_000055.2:c.-42T>C	NP_000046.1:n.-42T>C
XM_005247685.1:c.82T>C	XP_005247742.1:p.Cys28Arg
NM_000055.3:c.-42T>C	NP_000046.1:n.-42T>C
NR_137635.1:n.126T>C
NR_137636.1:n.126T>C
NM_000055.4:c.-42T>C MANE Select	NP_000046.1:n.-42T>C
NR_137635.2:n.77T>C
NR_137636.2:n.77T>C